Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001381809 | SCV001580327 | pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2020-03-05 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 2-3 of the CA5A gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CA5A-related conditions. Loss-of-function variants in CA5A are known to be pathogenic (PMID: 24530203, 26913920). For these reasons, this variant has been classified as Pathogenic. |