ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs)

dbSNP: rs267608099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074873 SCV000108085 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002453382 SCV002616391 pathogenic Hereditary cancer-predisposing syndrome 2020-02-06 criteria provided, single submitter clinical testing The c.3516_3519delAGTG pathogenic mutation, located in coding exon 6 of the MSH6 gene, results from a deletion of 4 nucleotides at nucleotide positions 3516 to 3519, causing a translational frameshift with a predicted alternate stop codon (p.R1172Sfs*11). This mutation has been reported in a patient diagnosed with cancer of the transverse colon at age 46 (Goldberg Y et al. Fam. Cancer, 2008 Apr;7:309-17). 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.

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