Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000570400 | SCV000675937 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-05-12 | criteria provided, single submitter | clinical testing | The c.1433delT pathogenic mutation, located in coding exon 11 of the APC gene, results from a deletion of one nucleotide at nucleotide position 1433, causing a translational frameshift with a predicted alternate stop codon (p.L478Yfs*20). 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. |
| Invitae | RCV003767237 | SCV002170814 | pathogenic | Familial adenomatous polyposis 1 | 2022-09-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 486782). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu478Tyrfs*20) 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). |
| Myriad Genetics, |
RCV001853813 | SCV004044901 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-01 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |