Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004582617 | SCV005063233 | pathogenic | Mitochondrial trifunctional protein deficiency | 2023-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HADHB-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the HADHB gene has been identified. Loss-of-function variants in HADHB are known to be pathogenic (PMID: 9259266, 12754706). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. |
| Labcorp Genetics |
RCV004582618 | SCV005063244 | pathogenic | Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2023-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with HADHA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-12 of the HADHA gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADHA are known to be pathogenic (PMID: 7738175, 21103935, 21549624, 22459206). |