ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs)

dbSNP: rs63750357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074768 SCV000107975 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
AiLife Diagnostics, AiLife Diagnostics RCV002223186 SCV002501746 pathogenic not provided 2022-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433571 SCV002745239 pathogenic Hereditary cancer-predisposing syndrome 2021-12-29 criteria provided, single submitter clinical testing The c.2611_2614dupATTA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of ATTA at nucleotide position 2611, causing a translational frameshift with a predicted alternate stop codon (p.I872Nfs*10). This alteration, described as c.2614_2615insATTA, was identified in a patient with a MSH6-deficient colon cancer and metachronous endometrial cancer (Plaschke J et al. J Clin Oncol, 2004 Nov;22:4486-94). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003450947 SCV004187297 pathogenic Lynch syndrome 5 2023-08-17 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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