ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.274G>A (p.Asp92Asn)

dbSNP: rs886041315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591773 SCV000704687 pathogenic not provided 2016-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509575 SCV004299648 pathogenic Fabry disease 2023-06-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 92 of the GLA protein (p.Asp92Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Fabry disease (PMID: 11322659; Invitae). ClinVar contains an entry for this variant (Variation ID: 499270). 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. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp92 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in individuals with GLA-related conditions (PMID: 9100224, 18724168, 20367968), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects GLA function (PMID: 21598360).

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