ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1421_1422dup (p.Gln475fs) (rs63750854)

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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 RCV000222326 SCV000276852 pathogenic Hereditary cancer-predisposing syndrome 2016-09-15 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),Other strong data supporting pathogenic classification
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074655 SCV000107857 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000540977 SCV000624646 pathogenic Hereditary nonpolyposis colon cancer 2018-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln475Cysfs*7) 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 the literature in individuals affected with rectal cancer, breast cancer, adenomatous polyps, and cafe au lait macules (PMID: 11807791, 21039432, 27616075, 15483016). In the literature, this variant is also known as 1510insTG. ClinVar contains an entry for this variant (Variation ID: 89193). ClinVar contains an entry for this variant (Variation ID: 89193). 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 RCV000759125 SCV000888238 pathogenic not provided 2018-06-11 criteria provided, single submitter clinical testing

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