ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2145del (p.Asp716fs) (rs1553369164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503521 SCV000592538 pathogenic Lynch syndrome 2012-03-18 criteria provided, single submitter clinical testing
Invitae RCV001218798 SCV001390701 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-04-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp716Thrfs*4) 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 and colorectal cancer (PMID: 26437257, 26485756). ClinVar contains an entry for this variant (Variation ID: 433896). 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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