Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002561766 | SCV001383416 | pathogenic | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FH are known to be pathogenic (PMID: 11865300, 21398687). This variant has not been reported in the literature in individuals with FH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser186Thrfs*16) in the FH gene. It is expected to result in an absent or disrupted protein product. |