ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs)

dbSNP: rs1114167721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491817 SCV000580175 pathogenic Hereditary cancer-predisposing syndrome 2018-03-20 criteria provided, single submitter clinical testing The c.2281_2282delAG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 2281 to 2282, causing a translational frameshift with a predicted alternate stop codon. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756351 SCV000884137 pathogenic not provided 2017-07-07 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV003447533 SCV004175470 pathogenic Lynch syndrome 5 2023-04-04 criteria provided, single submitter clinical testing The MSH6 c.2281_2282del variant is classified as Pathogenic (PVS1, PM2, PP4) The MSH6 c.2281_2282del variant is located in exon 4/10 and is predicted to cause a shift in the reading frame at codon 761, introducing a premature termination codon 2 amino acids downstream (PVS1). This variant is absent from population databases (PM2). The clinical features of this case are highly specific for MSH6 and the patient has a well-defined syndrome with little overlap with other clinical presentations as the patient’s tumour has LOE MSH6 (PP4). The variant has been reported in dbSNP (rs1114167721) and has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 428330). It has not been reported in HGMD.

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