ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.200G>T (p.Arg67Leu)

dbSNP: rs1213459678
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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 RCV002026772 SCV002316706 uncertain significance Tay-Sachs disease 2021-12-02 criteria provided, single submitter clinical testing 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 C0"). 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. This variant has not been reported in the literature in individuals affected with HEXA-related conditions. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 67 of the HEXA protein (p.Arg67Leu). This variant is not present in population databases (gnomAD no frequency).

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