ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.277G>A (p.Asp93Asn)

dbSNP: rs869312270
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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 RCV001220686 SCV001392692 pathogenic Fabry disease 2019-07-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp93 amino acid residue in GLA. Other variant(s) that disrupt this residue have been observed in individuals with GLA-related conditions (PMID: 18297328, 23935525, 8875188, 18205205, 16595074, 21972175), 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been observed in individuals affected with Fabry disease (PMID: 15806320, 15712228, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 93 of the GLA protein (p.Asp93Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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