ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.664A>C (p.Met222Leu)

gnomAD frequency: 0.00001  dbSNP: rs768751360
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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 RCV001976402 SCV002261684 uncertain significance Tay-Sachs disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 222 of the HEXA protein (p.Met222Leu). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and leucine. This variant is present in population databases (rs768751360, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. 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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