Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018712 | SCV001179981 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-12-20 | criteria provided, single submitter | clinical testing | The p.Q1041* pathogenic mutation (also known as c.3121C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 3121. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This mutation has been identified in multiple unrelated patients with FAP or AFAP (Nagase H et al. Hum. Mutat. 1992;1:467-73; Miyaki M et al. Cancer Res. 1994 Jun;54:3011-20; Friedl W et al. Hered Cancer Clin Pract. 2005 Sep;3:95-114). 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, |
RCV003336251 | SCV004045548 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |