Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000234542 | SCV000282717 | pathogenic | Familial adenomatous polyposis 1 | 2016-01-02 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.2314delA), causing a frameshift at codon 772. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Thr772Leufs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in an individual with familial adenomatous polyposis (PMID: 10083733). This variant is located in the last coding exon of APC. However, other downstream, pathogenic truncating variants have been reported in exon 16 (PMID: 20223039, 11247896, 1316610) For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV003337261 | SCV002217717 | pathogenic | Familial adenomatous polyposis 1 | 2016-01-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature  in an individual with familial adenomatous polyposis (PMID: 10083733). This variant is located in the last coding exon of APC. However, other downstream, pathogenic truncating variants have been reported in exon 16 (PMID: 20223039, 11247896, 1316610) This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.2314delA), causing a frameshift at codon 772. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Thr772Leufs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein. |
Myriad Genetics, |
RCV003337261 | SCV004043151 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-04 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |