ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) (rs63750778)

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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) RCV000075997 SCV000107007 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variant introducing a premature termination codon
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153512 SCV000203033 pathogenic not provided 2014-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000215536 SCV000274746 pathogenic Hereditary cancer-predisposing syndrome 2018-07-06 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001215910 SCV001387678 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln337*) 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 been observed in individuals with clinical features of Lynch syndorme (PMID: 11112663, 12200596). ClinVar contains an entry for this variant (Variation ID: 90502). 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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