ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) (rs797044774)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179727 SCV000232021 pathogenic not provided 2014-08-12 criteria provided, single submitter clinical testing
Invitae RCV001048991 SCV001213022 pathogenic Fabry disease 2019-04-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 358 of the GLA protein (p.Glu358Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with classic Fabry disease (PMID: 9452068, 26297554, 12429061, 12429061). ClinVar contains an entry for this variant (Variation ID: 198399). This variant has been reported to affect GLA protein function (PMID: 21598360, 26415523). This variant disrupts the p.Glu358 amino acid residue in GLA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26297554, 15712228, 15339079, 15713906, 18154965, 8807334). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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