ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)

dbSNP: rs2088664194
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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 RCV001044397 SCV001208193 likely pathogenic Tay-Sachs disease 2023-03-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gly269 amino acid residue in HEXA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2522679, 20363167). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 842051). This missense change has been observed in individual(s) with Tay-Sachs disease (PMID: 31076878). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 269 of the HEXA protein (p.Gly269Asp).
Natera, Inc. RCV001044397 SCV002086279 likely pathogenic Tay-Sachs disease 2021-09-30 no assertion criteria provided clinical testing

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