ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.970C>T (p.Gln324Ter) (rs63750502)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076766 SCV000107807 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV001019659 SCV001181046 pathogenic Hereditary cancer-predisposing syndrome 2018-02-11 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001050003 SCV001214089 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln324*) 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 (PMID: 16142001). ClinVar contains an entry for this variant (Variation ID: 91261). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000201985 SCV000257201 pathogenic not provided no assertion criteria provided research

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