Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000499978 | SCV000591036 | pathogenic | Familial multiple polyposis syndrome | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002350113 | SCV002646301 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-23 | criteria provided, single submitter | clinical testing | The c.502delA pathogenic mutation, located in coding exon 4 of the APC gene, results from a deletion of one nucleotide at nucleotide position 502, causing a translational frameshift with a predicted alternate stop codon (p.R168Efs*2). This mutation was detected in 2/66 probands with a clinical diagnosis of Familial Adenomatous Polyposis (FAP) (Jarry et al. Fam. Cancer 2011 Dec;10(4):659-65). In addition to the clinical data presented in the literature, 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, |
RCV003335410 | SCV004044025 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-26 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |