Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000024131 | SCV000946481 | pathogenic | Combined malonic and methylmalonic acidemia | 2023-10-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg523*) 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 (rs387907118, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with combined malonic and methylmalonic aciduria (PMID: 21841779). ClinVar contains an entry for this variant (Variation ID: 31135). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000024131 | SCV002796024 | pathogenic | Combined malonic and methylmalonic acidemia | 2022-01-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000024131 | SCV004215599 | pathogenic | Combined malonic and methylmalonic acidemia | 2023-09-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000024131 | SCV000045422 | pathogenic | Combined malonic and methylmalonic acidemia | 2011-08-14 | no assertion criteria provided | literature only | |
Natera, |
RCV000024131 | SCV002092436 | pathogenic | Combined malonic and methylmalonic acidemia | 2021-09-02 | no assertion criteria provided | clinical testing |