ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)

dbSNP: rs398123217
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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) RCV000078290 SCV000110130 pathogenic not provided 2012-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000822976 SCV000963808 pathogenic Fabry disease 2023-09-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GLA function (PMID: 19941952). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GLA protein function. ClinVar contains an entry for this variant (Variation ID: 92561). This missense change has been observed in individual(s) with Fabry disease (PMID: 19941952, 20367968, 27560961, 28756410; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 216 of the GLA protein (p.Tyr216Cys).
Genome-Nilou Lab RCV000822976 SCV002054424 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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