Submissions for variant NM_000251.2(MSH2):c.1327C>G (p.Leu443Val) (rs876659906)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213439	SCV000276847	uncertain significance	Hereditary cancer-predisposing syndrome	2015-07-07	criteria provided, single submitter	clinical testing	Insufficient or conflicting evidence
Invitae	RCV000226015	SCV000284105	uncertain significance	Hereditary nonpolyposis colorectal neoplasms	2019-10-15	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with valine at codon 443 of the MSH2 protein (p.Leu443Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 232660). 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: "Benign"; 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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