Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354571 | SCV002657138 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-07 | criteria provided, single submitter | clinical testing | The c.5996delC pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 5996, causing a translational frameshift with a predicted alternate stop codon (p.P1999Qfs*45). This alteration has been identified in one family diagnosed with FAP (Su LK et al. Hum. Genet. 2000 Jan; 106(1):101-7). In addition to the clinical data presented in the literature, 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, |
RCV003337250 | SCV004045666 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Mayo Clinic Laboratories, |
RCV000202028 | SCV000257021 | likely pathogenic | not provided | no assertion criteria provided | research |