ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1172C>T (p.Ala391Val) (rs864622674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205082 SCV000261728 uncertain significance Lynch syndrome 2015-10-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 391 of the MSH2 protein (p.Ala391Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000220404 SCV000276737 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-18 criteria provided, single submitter clinical testing Insufficient or conflicting evidence

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