Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035928 | SCV001199268 | pathogenic | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with F11-related conditions. ClinVar contains an entry for this variant (Variation ID: 835116). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr150Ilefs*13) in the F11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F11 are known to be pathogenic (PMID: 23929304). For these reasons, this variant has been classified as Pathogenic. |