ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1846C>T (p.Pro616Ser) (rs587782627)

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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 RCV000132012 SCV000187071 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-11 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000629677 SCV000750633 uncertain significance Hereditary nonpolyposis colon cancer 2019-05-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 616 of the MSH2 protein (p.Pro616Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. 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. ClinVar contains an entry for this variant (Variation ID: 142665). 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.
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030712 SCV001193634 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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