Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003742620 | SCV000647257 | pathogenic | Familial adenomatous polyposis 1 | 2021-07-23 | 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 4 nucleotides in exon 16 of the APC mRNA (c.2686_2689dupGCCA), causing a frameshift at codon 897. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ile897Serfs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1947 amino acids (~68%) of the APC protein. |
Myriad Genetics, |
RCV002526199 | SCV004043350 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |