ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)

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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 RCV003082805 SCV003482589 uncertain significance Tay-Sachs disease 2018-04-12 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 381 of the HEXA protein (p.Val381Glu). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is present in population databases (rs746272701, ExAC 0.002%). This variant has not been reported in the literature in individuals with HEXA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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.

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