ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3918_3919delinsAGAT (p.Asn1307fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004013948 SCV004840098 likely pathogenic Lynch syndrome 2024-01-12 criteria provided, single submitter clinical testing The c.3918_3919delinsAGAT (p.Asn1307Aspfs*21) variant in the MSH6 gene is located on the exon 9 and is predicted to cause shift of reading frame that introduces a premature translation termination codon (p.Asn1307Aspfs*21), resulting in a disrupted protein product. This variant is not expected to cause nonsense-mediated mRNA decay. Other frameshift/truncation variants located upstream and downstream to this position in the same exon have been reported in individuals with Lynch syndrome-associated cancer (ClinVar ID: 230870, 89486). The variant is not reported in ClinVar and absent in the general population database (gnomAD). Therefore, the c.3918_3919delinsAGAT (p.Asn1307Aspfs*21) variant of MSH6 has been classified as likely pathogenic.

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