ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)

dbSNP: rs745555933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213325 SCV001384951 uncertain significance Tay-Sachs disease 2019-08-02 criteria provided, single submitter clinical testing 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. 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 C15"). This variant has not been reported in the literature in individuals with HEXA-related conditions. This variant is present in population databases (rs745555933, ExAC 0.009%). This sequence change replaces aspartic acid with tyrosine at codon 347 of the HEXA protein (p.Asp347Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine.
Natera, Inc. RCV001213325 SCV002085685 uncertain significance Tay-Sachs disease 2021-06-01 no assertion criteria provided clinical testing

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