Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217935 | SCV000275949 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-05-21 | criteria provided, single submitter | clinical testing | The c.1654_1658delTCTTG pathogenic mutation, located in coding exon 13 of the APC gene, results from a deletion of 5 nucleotides at positions 1654 to 1658, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts 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, |
RCV003337255 | SCV004044607 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-02 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |