Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001384716 | SCV001584335 | pathogenic | Combined malonic and methylmalonic acidemia | 2022-09-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 5-8 of the ACSF3 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. For these reasons, this variant has been classified as Pathogenic. |