ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter) (rs63750245)

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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) RCV000030234 SCV000107014 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variant introducing a premature termination codon
Integrated Genetics/Laboratory Corporation of America RCV000030234 SCV000052901 pathogenic Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759091 SCV000888193 pathogenic not provided 2017-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001009753 SCV001169856 pathogenic Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001224622 SCV001396834 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-05-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln344*) 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 Lynch syndrome (PMID: 15571801, 12655568, 27468915). ClinVar contains an entry for this variant (Variation ID: 36561). 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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