ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1328T>C (p.Leu443Pro) (rs1553361220)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524724 SCV000625251 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-03-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 443 of the MSH2 protein (p.Leu443Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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