Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211942 | SCV001383510 | pathogenic | Combined malonic and methylmalonic acidemia | 2023-09-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys88Valfs*30) in the ACSF3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). This variant is present in population databases (rs775569136, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. ClinVar contains an entry for this variant (Variation ID: 942038). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001211942 | SCV004213762 | likely pathogenic | Combined malonic and methylmalonic acidemia | 2023-10-17 | criteria provided, single submitter | clinical testing |