Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204919 | SCV001376150 | pathogenic | Combined malonic and methylmalonic acidemia | 2019-10-07 | 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ACSF3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001204919 | SCV004212377 | likely pathogenic | Combined malonic and methylmalonic acidemia | 2023-04-30 | criteria provided, single submitter | clinical testing |