ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2728C>A (p.Gln910Lys) (rs775130557)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463661 SCV000548148 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-03-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 910 of the MSH2 protein (p.Gln910Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs775130557, ExAC 0.005%). This variant has been reported in individuals affected with breast and ovarian cancer (PMID: 26976419, 23047549). ClinVar contains an entry for this variant (Variation ID: 408463). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color RCV000771514 SCV000904010 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing

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