Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240651 | SCV001413617 | pathogenic | Combined oxidative phosphorylation defect type 14 | 2019-11-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FARS2 are known to be pathogenic (PMID: 22833457). This variant has not been reported in the literature in individuals with FARS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln296*) in the FARS2 gene. It is expected to result in an absent or disrupted protein product. |