ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1120C>T (p.Gln374Ter) (rs63750558)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162405 SCV000212737 pathogenic Hereditary cancer-predisposing syndrome 2018-01-10 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)
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076043 SCV000107056 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing a premature termination codon
Invitae RCV000076043 SCV000218746 pathogenic Lynch syndrome 2014-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 374 (p.Gln374*). It is expected to result in an absent or disrupted protein product. Truncating sequence changes in MSH2 are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with Lynch syndrome (PMID: 15849733). For these reasons, this sequence change has been classified as Pathogenic.

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