ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.790C>T (p.Gln264Ter) (rs878853824)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563208 SCV000669712 pathogenic Hereditary cancer-predisposing syndrome 2016-08-17 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)
GeneDx RCV000235710 SCV000293614 pathogenic not provided 2015-12-03 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH2 c.790C>T at the cDNA level and p.Gln264Ter (Q264X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000233889 SCV000284185 pathogenic Hereditary nonpolyposis colon cancer 2018-06-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln264*) 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 individuals in the Universal Mutation Database (PMID: 10612827). ClinVar contains an entry for this variant (Variation ID: 237408). 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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