Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574445 | SCV000672585 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | The c.4141_4142insGGTC pathogenic mutation (also known as p.P1381RFS*6), located in coding exon 15 of the APC gene, results from an insertion of 4 nucleotides at position 4141, causing a translational frameshift with a predicted alternate stop codon. This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003335513 | SCV004043645 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-10 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |