ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.478C>T (p.Gln160Ter) (rs63751426)

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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) RCV000076606 SCV000107642 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000547313 SCV000625429 pathogenic Hereditary nonpolyposis colon cancer 2017-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln160*) 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: 91103). 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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