ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.437G>T (p.Gly146Val) (rs772052262)

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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 RCV000166585 SCV000217387 uncertain significance Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000205937 SCV000260599 uncertain significance Hereditary nonpolyposis colon cancer 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 146 of the MSH2 protein (p.Gly146Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs772052262, ExAC 0.003%). This variant has been observed in an individual affected with endometrial cancer (PMID: 28051113). ClinVar contains an entry for this variant (Variation ID: 186918). An algorithm developed specifically for the MSH2 gene suggests that this missense change is likely to be tolerated (PMID: 22949387). However, this prediction has not been confirmed by published functional studies and its 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.
Counsyl RCV000662555 SCV000785139 uncertain significance Lynch syndrome I 2017-05-15 criteria provided, single submitter clinical testing

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