Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
All of Us Research Program, |
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. |