ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.242G>A (p.Trp81Ter)

dbSNP: rs398123208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000157886 SCV000110113 pathogenic not provided 2012-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000157886 SCV000207817 pathogenic not provided 2013-05-28 criteria provided, single submitter clinical testing The W81X mutation in the GLA gene has been reported in one individual with Fabry disease (Shabbeer et al., 2002). W81X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the GLA gene have been reported in association with Fabry disease. Approximately 60-70% of females with a single GLA mutation have some disease manifestations, and 10% of these individuals present with a disease severity that is similar to that of affected males (Bennett et al., 2002).The variant is found in HCM panel(s).
Genome-Nilou Lab RCV001807017 SCV002054452 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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