ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)

dbSNP: rs2088724627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041214 SCV001204816 uncertain significance Tay-Sachs disease 2021-11-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 839454). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 160 of the HEXA protein (p.Glu160Lys). 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.
Natera, Inc. RCV001041214 SCV002089746 uncertain significance Tay-Sachs disease 2020-03-19 no assertion criteria provided clinical testing

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