ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2123T>C (p.Ile708Thr) (rs63750108)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563438 SCV000662282 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000629938 SCV000750894 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-05-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 708 of the MSH2 protein (p.Ile708Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. 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 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 RCV000563438 SCV000906773 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-12 criteria provided, single submitter clinical testing

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