Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003537083 | SCV000647693 | pathogenic | Familial adenomatous polyposis 1 | 2021-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln238Profs*14) 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. ClinVar contains an entry for this variant (Variation ID: 470077). 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). |