ClinVar Miner

Submissions for variant NM_000405.5(GM2A):c.538C>A (p.Arg180Ser)

dbSNP: rs771081390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885843 SCV002138101 uncertain significance Tay-Sachs disease, variant AB 2021-11-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 180 of the GM2A protein (p.Arg180Ser). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with GM2A-related conditions. 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"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002552195 SCV003548241 uncertain significance Inborn genetic diseases 2021-12-08 criteria provided, single submitter clinical testing The c.538C>A (p.R180S) alteration is located in exon 4 (coding exon 4) of the GM2A gene. This alteration results from a C to A substitution at nucleotide position 538, causing the arginine (R) at amino acid position 180 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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