Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000776800 | SCV000912452 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000776800 | SCV002633410 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-11 | criteria provided, single submitter | clinical testing | The c.451delC pathogenic mutation, located in coding exon 5 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 451, causing a translational frameshift with a predicted alternate stop codon (p.R151Afs*50). 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, |
RCV003453608 | SCV004187717 | pathogenic | Lynch syndrome 4 | 2023-09-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |