Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985917 | SCV001134612 | likely pathogenic | not provided | 2019-02-09 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/258576 chr). |
| Ambry Genetics | RCV002382220 | SCV002669175 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing | The c.726delT pathogenic mutation, located in coding exon 7 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 726, causing a translational frameshift with a predicted alternate stop codon (p.F242Lfs*16). 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, |
RCV003454995 | SCV004188579 | pathogenic | Lynch syndrome 4 | 2023-09-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |