Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002426398 | SCV002740786 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-26 | criteria provided, single submitter | clinical testing | The c.262_271del10 pathogenic mutation, located in coding exon 2 of the MSH6 gene, results from a deletion of 10 nucleotides at nucleotide positions 262 to 271, causing a translational frameshift with a predicted alternate stop codon (p.C88Hfs*58). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
Myriad Genetics, |
RCV004062966 | SCV004930935 | pathogenic | Lynch syndrome 5 | 2024-02-21 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |