ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter) (rs587779097)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076189 SCV000107206 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV000076189 SCV000548183 pathogenic Lynch syndrome 2016-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 510 (p.Gln510*) of the MSH2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported as a germline variant in the literature, truncating 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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