Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003743775 | SCV000647185 | pathogenic | Familial adenomatous polyposis 1 | 2019-04-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). This sequence change inserts 1 nucleotide in exon 13 of the APC mRNA (c.1564dupA), causing a frameshift at codon 522. This creates a premature translational stop signal (p.Met522Asnfs*15) and is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002404498 | SCV002709909 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-22 | criteria provided, single submitter | clinical testing | The c.1564dupA pathogenic mutation, located in coding exon 12 of the APC gene, results from a duplication of A at nucleotide position 1564, causing a translational frameshift with a predicted alternate stop codon (p.M522Nfs*15). 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, |
RCV003337307 | SCV004045772 | 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. |