ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.522_523del (p.Arg174fs)

dbSNP: rs267608037
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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) RCV000075006 SCV000108223 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Myriad Genetics, Inc. RCV003450989 SCV004188193 pathogenic Lynch syndrome 5 2023-08-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004019097 SCV005032965 pathogenic Hereditary cancer-predisposing syndrome 2023-12-27 criteria provided, single submitter clinical testing The c.522_523delAG pathogenic mutation, located in coding exon 3 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 522 to 523, causing a translational frameshift with a predicted alternate stop codon (p.R174Sfs*7). This mutation (designated 522delAG) was identified in an individual with two mismatch repair-proficient (MMR-p) tubular adenomas at age 47 (Pino MS et al. J Mol Diagn, 2009 May;11:238-47). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation.

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