Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821385 | SCV000962140 | pathogenic | Familial adenomatous polyposis 2 | 2022-08-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 663501). This sequence change creates a premature translational stop signal (p.Val407*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. For these reasons, this variant has been classified as Pathogenic. |