Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809509 | SCV000949662 | pathogenic | Combined malonic and methylmalonic acidemia | 2018-10-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). This variant has not been reported in the literature in individuals with ACSF3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu226Trpfs*12) in the ACSF3 gene. It is expected to result in an absent or disrupted protein product. |