Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002455724 | SCV002739279 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-07 | criteria provided, single submitter | clinical testing | The c.2530_2534delATGTA variant, located in coding exon 4 of the MSH6 gene, results from a deletion of 5 nucleotides at nucleotide positions 2530 to 2534, causing a translational frameshift with a predicted alternate stop codon (p.M844*). 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, |
RCV003455479 | SCV004186020 | pathogenic | Lynch syndrome 5 | 2023-11-14 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |