ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2096C>G (p.Ser699Ter) (rs587779136)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076387 SCV000107414 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000076387 SCV000548141 pathogenic Lynch syndrome 2016-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 699 (p.Ser699*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000490933 SCV000580562 pathogenic Hereditary cancer-predisposing syndrome 2014-07-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000657578 SCV000779315 pathogenic not provided 2014-12-30 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH2 c.2096C>G at the cDNA level and p.Ser699Ter (S699X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
PreventionGenetics,PreventionGenetics RCV000657578 SCV000806024 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing

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