Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211043 | SCV001382564 | pathogenic | not provided | 2020-02-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CYP4V2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu310*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). For these reasons, this variant has been classified as Pathogenic. |