Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018431 | SCV001179668 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-16 | criteria provided, single submitter | clinical testing | The c.887_891delTCAGCins36 variant, located in coding exon 5 of the MSH2 gene, results from the deletion of 5 nucleotides and insertion of 36 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.F296Yfs*6). 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, |
RCV003455100 | SCV004187828 | pathogenic | Lynch syndrome 1 | 2023-07-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |