ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) (rs63750849)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076507 SCV000107536 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000076507 SCV000548310 pathogenic Lynch syndrome 2016-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 860 (p.Ser860*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This particular variant has been reported in individuals affected with hereditary non-polyposis colorectal cancer (PMID: 12655562, 15849733). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491600 SCV000580644 pathogenic Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Pathway Genomics RCV000144616 SCV000189943 pathogenic Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing

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