ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)

dbSNP: rs869312344
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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) RCV000726225 SCV000343037 pathogenic not provided 2018-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000359005 SCV000748693 pathogenic Fabry disease 2022-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys202 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in individuals with GLA-related conditions (PMID: 10208848), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change affects GLA function (PMID: 26415523). 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: 222314). This missense change has been observed in individual(s) with Fabry disease (PMID: 9100224, 19387866, 23935525; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 202 of the GLA protein (p.Cys202Tyr).
Genome-Nilou Lab RCV000359005 SCV002054429 likely pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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