Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041671 | SCV001205297 | pathogenic | Combined malonic and methylmalonic acidemia | 2023-04-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 839825). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for ACSF3-related disease (PMID: 30041674). This variant is present in population databases (rs142575695, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln142*) 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). |
Baylor Genetics | RCV001041671 | SCV004215677 | pathogenic | Combined malonic and methylmalonic acidemia | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274015 | SCV001457697 | pathogenic | Methylmalonic acidemia | 2020-09-16 | no assertion criteria provided | clinical testing |