ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.599C>G (p.Ser200Ter) (rs63751077)

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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 RCV000491993 SCV000580327 pathogenic Hereditary cancer-predisposing syndrome 2017-09-30 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 RCV000217643 SCV000279607 pathogenic not provided 2015-11-24 criteria provided, single submitter clinical testing This pathogenic variant is denoted MSH6 c.599C>G at the cDNA level and p.Ser200Ter (S200X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with colorectal cancer (Jenkins 2006). We therefore consider this variant to be pathogenic.
Invitae RCV000692262 SCV000820076 pathogenic Hereditary nonpolyposis colon cancer 2018-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser200*) in the MSH6 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 colorectal cancer (PMID: 16616355). ClinVar contains an entry for this variant (Variation ID: 234621). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.

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