Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792573 | SCV000931878 | pathogenic | Combined malonic and methylmalonic acidemia | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg434*) 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 (rs766764090, gnomAD 0.006%). 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: 639703). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000792573 | SCV004210566 | likely pathogenic | Combined malonic and methylmalonic acidemia | 2023-06-28 | criteria provided, single submitter | clinical testing |