ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.741dup (p.Arg248fs) (rs267608041)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490856 SCV000580210 pathogenic Hereditary cancer-predisposing syndrome 2018-01-23 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)
Counsyl RCV000576398 SCV000677882 likely pathogenic Hereditary nonpolyposis colorectal cancer type 5 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000462389 SCV000551223 pathogenic Hereditary nonpolyposis colon cancer 2018-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg248Thrfs*8) 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 not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 410494). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507816 SCV000601617 pathogenic not provided 2017-07-11 criteria provided, single submitter clinical testing

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