Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000576769 | SCV000677878 | likely pathogenic | Familial adenomatous polyposis 1 | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002232674 | SCV000768263 | pathogenic | Familial adenomatous polyposis 1 | 2017-11-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val569*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000657832 | SCV000779588 | pathogenic | not provided | 2017-10-26 | criteria provided, single submitter | clinical testing | This deletion of one nucleotide is denoted APC c.1705delG at the cDNA level and p.Val569Ter (V569X) at the protein level. The normal sequence, with the base that is deleted in brackets, is AAGT[delG]TGAA. The deletion creates a nonsense variant, which changes a Valine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic. |
Ambry Genetics | RCV002413653 | SCV002715541 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-12-24 | criteria provided, single submitter | clinical testing | The c.1705delG pathogenic mutation, located in coding exon 13 of the APC gene, results from a deletion of one nucleotide at nucleotide position 1705, 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, |
RCV000576769 | SCV004044870 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-02 | 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. |