ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1285C>T (p.Gln429Ter) (rs63751693)

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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 RCV000214917 SCV000278742 pathogenic Hereditary cancer-predisposing syndrome 2015-09-29 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)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076112 SCV000592498 pathogenic Lynch syndrome 2015-12-02 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076112 SCV000107127 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000627701 SCV000253798 pathogenic Hereditary nonpolyposis colon cancer 2017-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln429*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in several families affected with Lynch syndrome (PMID: 7726159, 15955785, 15849733). ClinVar contains an entry for this variant (Variation ID: 90616). 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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