ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.127G>C (p.Gly43Arg)

dbSNP: rs886044906
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956188 SCV002239476 pathogenic Fabry disease 2021-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly43 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in individuals with GLA-related conditions (PMID: 12175777), which suggests that this may be a clinically significant amino acid residue. 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. This missense change has been observed in individual(s) with Fabry disease (PMID: 12428061, 19285316). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 43 of the GLA protein (p.Gly43Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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