Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230340 | SCV001402815 | likely pathogenic | Combined malonic and methylmalonic acidemia | 2019-09-25 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg558 amino acid residue in ACSF3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21841779, 26827111, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with ACSF3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the ACSF3 gene (p.Gly470Profs*95). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 107 amino acids of the ACSF3 protein. |