Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491829 | SCV000579823 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-07-08 | criteria provided, single submitter | clinical testing | The p.Q901* pathogenic mutation (also known as c.2701C>T) located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2701. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This pathogenic mutation has been reported in a Greek individual diagnosed with FAP at age 28 (Fostira F et al. BMC Cancer. 2010 Jul 22;10:389). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Myriad Genetics, |
RCV003335383 | SCV004044143 | 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. |