ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) (rs63751155)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491630 SCV000580398 pathogenic Hereditary cancer-predisposing syndrome 2015-07-22 criteria provided, single submitter clinical testing
Color RCV000491630 SCV000685026 pathogenic Hereditary cancer-predisposing syndrome 2016-09-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076435 SCV000592546 pathogenic Lynch syndrome criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000851293 SCV000993565 pathogenic Lynch syndrome I 2018-09-11 criteria provided, single submitter research
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076435 SCV000107464 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000630114 SCV000751070 pathogenic Hereditary nonpolyposis colon cancer 2018-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser743*) 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 an individual affected with Muir-Torre syndrome (PMID: 15235030). ClinVar contains an entry for this variant (Variation ID: 90933). 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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