ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.394G>A (p.Gly132Arg)

dbSNP: rs1555985855
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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) RCV000595439 SCV000703987 pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000595439 SCV002018444 likely pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854029 SCV002240924 pathogenic Fabry disease 2022-04-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Fabry disease (PMID: 17532296, 18046674, 27560961, 28615118). ClinVar contains an entry for this variant (Variation ID: 498788). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects GLA function (PMID: 23935525). For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 132 of the GLA protein (p.Gly132Arg).

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