ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)

gnomAD frequency: 0.00016  dbSNP: rs761736583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670579 SCV000795448 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000670579 SCV003028402 uncertain significance Tay-Sachs disease 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 492 of the HEXA protein (p.Asp492Gly). This variant is present in population databases (rs761736583, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554871). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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