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 colon cancer	2018-09-24	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	2018-07-13	criteria provided, single submitter	clinical testing

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