ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) (rs191330716)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804707 SCV000944629 uncertain significance Tay-Sachs disease 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 343 of the HEXA protein (p.Gly343Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs191330716, ExAC 0.04%). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284498 SCV001470326 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000804707 SCV001461907 uncertain significance Tay-Sachs disease 2017-04-21 no assertion criteria provided clinical testing

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