ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1066C>T (p.Arg356Trp) (rs104894827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000011459 SCV000058947 pathogenic Fabry disease 2018-09-26 criteria provided, single submitter clinical testing The Arg356Trp variant in GLA has been reported in at least 10 individuals with F abry disease or hypertrophic cardiomyopathy, including at least 2 females, and s egregated with disease in 4 clinically or biochemically affected family members across 3 families most of whom had a "mild classic" Fabry disease phenotype (Ber nstein 1989, Lin 2009, Turaca 2012, Romao 2013, Pasqualim 2014, LMM data). This variant was absent from large population studies. Several in vitro functional st udies have shown that this variant is associated with significantly reduced alph a-galactosidase A activity (Wu 2011, Siekierska 2012, Lukas 2013). In summary, t his variant meets criteria to be classified as pathogenic for X-linked Fabry dis ease based on case observations, segregation studies, absence from controls, and functional evidence. ACMG/AMP criteria applied: PS4, PM2, PS3_Moderate, PP1, PP 4.
OMIM RCV000011459 SCV000031691 pathogenic Fabry disease 1989-04-01 no assertion criteria provided literature only

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