Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795961 | SCV000935443 | pathogenic | Combined malonic and methylmalonic acidemia | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp230*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 642486). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000795961 | SCV004213807 | likely pathogenic | Combined malonic and methylmalonic acidemia | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000795961 | SCV002092413 | pathogenic | Combined malonic and methylmalonic acidemia | 2021-06-25 | no assertion criteria provided | clinical testing |