ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3198_3199dup (p.Ser1067fs)

dbSNP: rs63749821
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074816 SCV000108027 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV001381215 SCV001579518 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual with endometrial cancer (PMID: 12732731). This variant is also known as "Insert TA after 3195" in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1067Ilefs*13) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816).
Myriad Genetics, Inc. RCV003450961 SCV004185832 pathogenic Lynch syndrome 5 2023-08-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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