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This VCEP made specifications for ACMG\/AMP guidelines for the ataxia telangiectasia mutated (\n                  <jats:italic>ATM<\/jats:italic>\n                  ) gene according to the Food and Drug Administration (FDA)-approved ClinGen protocol. These gene-specific rules for\n                  <jats:italic>ATM<\/jats:italic>\n                  were modified from the American College of Medical Genetics and Association for Molecular Pathology (ACMG\/AMP) guidelines and were tested against 33\n                  <jats:italic>ATM<\/jats:italic>\n                  variants of various types and classifications in a pilot curation phase. The pilot revealed a majority agreement between the HBOP VCEP classifications and the ClinVar-deposited classifications. Six pilot variants had conflicting interpretations in ClinVar and reevaluation with the VCEP\u2019s\n                  <jats:italic>ATM<\/jats:italic>\n                  -specific rules resulted in four that were classified as benign, one as likely pathogenic and one as a variant of uncertain significance (VUS) by the VCEP, improving the certainty of interpretations in the public domain. Overall, 28 the 33 pilot variants were not VUS leading to an 85% classification rate. The ClinGen-approved, modified rules demonstrated value for improved interpretation of variants in\n                  <jats:italic>ATM<\/jats:italic>\n                  .\n                <\/jats:p>","DOI":"10.1101\/2024.05.28.24307502","type":"posted-content","created":{"date-parts":[[2024,5,29]],"date-time":"2024-05-29T14:15:17Z","timestamp":1716992117000},"source":"Crossref","is-referenced-by-count":1,"title":["Specifications of the ACMG\/AMP variant curation guidelines for the analysis of germline\n                  <i>ATM<\/i>\n                  sequence variants"],"prefix":"10.64898","author":[{"given":"Marcy E.","family":"Richardson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Holdren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terra","family":"Brannan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"de la Hoya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda B.","family":"Spurdle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean V.","family":"Tavtigian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin C.","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Zec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Hiraki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Logan C.","family":"Walker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon","family":"McNulty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clare","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Tischkowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Schon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Slavin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William D.","family":"Foulkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Cline","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alvaro N.","family":"Monteiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Pesaran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fergus J.","family":"Couch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"key":"2024053104400762000_2024.05.28.24307502v1.1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2024053104400762000_2024.05.28.24307502v1.2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20880"},{"key":"2024053104400762000_2024.05.28.24307502v1.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1508700"},{"key":"2024053104400762000_2024.05.28.24307502v1.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMSR1406261"},{"key":"2024053104400762000_2024.05.28.24307502v1.5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1508700"},{"key":"2024053104400762000_2024.05.28.24307502v1.6","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2013.275"},{"key":"2024053104400762000_2024.05.28.24307502v1.7","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.21971"},{"key":"2024053104400762000_2024.05.28.24307502v1.8","doi-asserted-by":"publisher","DOI":"10.1093\/JNCICS\/PKAB044"},{"key":"2024053104400762000_2024.05.28.24307502v1.9","doi-asserted-by":"publisher","DOI":"10.1001\/JAMAONCOL.2021.3701"},{"key":"2024053104400762000_2024.05.28.24307502v1.10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1913948"},{"key":"2024053104400762000_2024.05.28.24307502v1.11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2005936"},{"key":"2024053104400762000_2024.05.28.24307502v1.12","unstructured":"Veenhuis, S. , van Os, N. , Weemaes, C. , Kamsteeg, E.-J. , Willemsen, M. , Adam, M.P. , Feldman, J. , Mirzaa, G.M. , Pagon, R.A. , Wallace, S.E. , et al. 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