Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001946638 | SCV002236665 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2021-04-21 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CPT1A gene has been identified. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with CPT1A-related conditions. For these reasons, this variant has been classified as Pathogenic. |