ClinVar Miner

Submissions for variant NM_001281492.1(MSH6):c.1416_1419del (p.Glu474fs) (rs63750735)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074687 SCV000107890 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000558537 SCV000624693 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-04-16 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 4 of the MSH6 mRNA (c.1806_1809delAAAG), causing a frameshift at codon 604. This creates a premature translational stop signal (p.Glu604Leufs*5) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with colon cancer (PMID: 11470537, 26805314) and in an individual affected with 4 synchronous colorectal cancers at age 16 years, who also had a second pathogenic variant in MSH6 on the opposite chromosome (PMID: 18409202). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000074687 SCV000837887 pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985827 SCV001134398 pathogenic not provided 2019-06-04 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Mendelics RCV000986718 SCV001135811 pathogenic Hereditary nonpolyposis colorectal cancer type 5 2019-05-28 criteria provided, single submitter clinical testing

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