ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3983dup (p.Ser1329fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375553 SCV002625195 pathogenic Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter clinical testing The c.3983dupA pathogenic mutation, located in coding exon 9 of the MSH6 gene, results from a duplication of A at nucleotide position 3983, causing a translational frameshift with a predicted alternate stop codon (p.S1329Vfs*12). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration occurs at the 3' terminus of theMSH6 gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 32 AA of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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