ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.525_532del (p.Cys176fs) (rs1114167877)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491537 SCV000580618 pathogenic Hereditary cancer-predisposing syndrome 2017-01-23 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000689240 SCV000816882 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-05-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys176Profs*2) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. 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: 428549). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.

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