ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3980_3983del (p.Asn1327fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375542 SCV002624592 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-24 criteria provided, single submitter clinical testing The c.3980_3983delATCA variant, located in coding exon 9 of the MSH6 gene, results from a deletion of 4 nucleotides at nucleotide positions 3980 to 3983, causing a translational frameshift with a predicted alternate stop codon (p.N1327Sfs*18). This alteration occurs at the 3' terminus of theMSH6 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 34 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV004050528 SCV004930846 likely pathogenic Lynch syndrome 5 2023-12-28 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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