Submissions for variant NM_000251.2(MSH2):c.988C>A (p.Leu330Met) (rs1553353157)

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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	RCV000569561	SCV000669879	uncertain significance	Hereditary cancer-predisposing syndrome	2017-08-03	criteria provided, single submitter	clinical testing	In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence
Invitae	RCV000820636	SCV000961356	uncertain significance	Hereditary nonpolyposis colorectal neoplasms	2019-12-05	criteria provided, single submitter	clinical testing	This sequence change replaces leucine with methionine at codon 330 of the MSH2 protein (p.Leu330Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 483757). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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