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In this series, 12 patients presented for clinical evaluation of SWS but were noted to have atypical features, and therefore germline and\/or somatic genetic testing was performed. Atypical features included extensive capillary malformation on the body as well as the face, frontal bossing, macrocephaly, telangiectasia, overgrowth of extremities, absence of neurologic signs and symptoms, and family history of vascular malformations. Five patients had a somatic<jats:italic>GNAQ<\/jats:italic>or<jats:italic>GNA11<\/jats:italic>pathogenic variant, one patient had a somatic mosaic likely\u2010pathogenic variant in<jats:italic>PIK3CA,<\/jats:italic>and another one had a somatic mosaic deletion that disrupted<jats:italic>PTPRD<\/jats:italic>. The other five patients had germline variants in<jats:italic>RASA1<\/jats:italic>,<jats:italic>EPHB4<\/jats:italic>, or<jats:italic>KIT<\/jats:italic>. Our findings suggest that patients presenting for SWS evaluation who have atypical clinical characteristics may have pathogenic germline or somatic variants in genes other than<jats:italic>GNAQ<\/jats:italic>or<jats:italic>GNA11<\/jats:italic>. Broad germline and somatic genetic testing in these patients with atypical findings may have implications for medical care, prognosis, and trial eligibility.<\/jats:p>","DOI":"10.1002\/ajmg.a.63106","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T04:23:22Z","timestamp":1675052602000},"page":"983-994","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genetic testing in the evaluation of individuals with clinical diagnosis of atypical<scp>Sturge\u2013Weber<\/scp>syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8421-2251","authenticated-orcid":false,"given":"SangEun","family":"Yeom","sequence":"first","affiliation":[{"name":"Department of Neurology and Developmental Medicine Hugo Moser Kennedy Krieger Research Institute Baltimore Maryland 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