Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535991 | SCV000949230 | pathogenic | Familial adenomatous polyposis 1 | 2023-08-11 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with attenuated familial adenomatous polyposis (PMID: 16134147). This variant is also known as c.1176_1177insT (p.His393_PhefsX396). ClinVar contains an entry for this variant (Variation ID: 653337). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser393Phefs*4) 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). |