Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382155 | SCV001580786 | pathogenic | Combined malonic and methylmalonic acidemia | 2022-11-08 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs764608253, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070125). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. This sequence change creates a premature translational stop signal (p.Arg434Glufs*71) 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 | RCV001382155 | SCV004213884 | likely pathogenic | Combined malonic and methylmalonic acidemia | 2023-09-28 | criteria provided, single submitter | clinical testing |