ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2575G>T (p.Glu859Ter) (rs63749830)

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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) RCV000076506 SCV000107535 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076506 SCV000592552 pathogenic Lynch syndrome 2015-09-01 criteria provided, single submitter clinical testing
Invitae RCV000794539 SCV000933953 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu859*) 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 affected with Lynch syndrome (PMID: 15849733, 20388775). ClinVar contains an entry for this variant (Variation ID: 91004). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001015992 SCV001176894 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)
Color RCV001015992 SCV001355752 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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