ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) (rs63750488)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561407 SCV000664857 pathogenic Hereditary cancer-predisposing syndrome 2017-04-18 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)
Counsyl RCV000410998 SCV000488116 pathogenic Lynch syndrome I 2015-12-30 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076689 SCV000107724 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000629942 SCV000750898 pathogenic Hereditary nonpolyposis colon cancer 2017-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln239*) 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 reported in individuals affected with Lynch syndrome-related cancers (PMID: 12626904, 22883484, 16451135). ClinVar contains an entry for this variant (Variation ID: 91185). 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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