Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Inherited Metabolic Diseases, |
RCV000855776 | SCV000998991 | pathogenic | Mitochondrial DNA depletion syndrome 13 | 2019-07-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869312 | SCV002185118 | pathogenic | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FBXL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 694444). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn210Leufs*9) in the FBXL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBXL4 are known to be pathogenic (PMID: 23993193, 23993194, 25868664). |