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During that period the majority of abnormal referrals received (34\/60) were for the presence of the controversial c.427G\u2009&gt;\u2009A (p.Ala143Thr) aka A143T and the majority of non\u2010A143T referrals were for other variants of uncertain significance (17\/60) resulting in at least 32 infants with an inconclusive case outcome even after clinical evaluation and\/or diagnostic testing. To date there has been no significant family history or onset of symptoms in individuals with an inconclusive outcome. Based on our experience, we have developed a framework for approaching A143T and other variants of uncertain clinical significance in an attempt to balance sensitivity with the unnecessary medicalization of healthy infants.<\/jats:p>","DOI":"10.1002\/ajmg.c.31998","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T08:44:15Z","timestamp":1664181855000},"page":"206-214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Newborn screening for Fabry disease in Oregon: Approaching the iceberg of <scp>A143T<\/scp> and variants of uncertain significance"],"prefix":"10.1002","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1878-3870","authenticated-orcid":false,"given":"Sarah","family":"Viall","sequence":"first","affiliation":[{"name":"Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Dennis","sequence":"additional","affiliation":[{"name":"Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Yang","sequence":"additional","affiliation":[{"name":"Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2021.40998"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns7030037"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.06.048"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-017-2950-8"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-022-03160-1"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2012.11.003"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.12.067"},{"key":"e_1_2_8_9_1","volume-title":"The online metabolic and molecular bases of inherited disease","author":"Desnick R. 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