ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)

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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 RCV003082807 SCV003484395 uncertain significance Tay-Sachs disease 2018-04-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 379 of the HEXA protein (p.Asn379Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs770176144, ExAC 0.006%). 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: "Deleterious"; 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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