Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000497579 | SCV000589334 | pathogenic | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | The c.693_696dupCGCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.693_696dupCGCT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.693_696dupCGCT variant causes a frameshift starting with codon Alanine 233, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ala233ArgfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic. |
| Labcorp Genetics |
RCV001856999 | SCV002245550 | pathogenic | Mitochondrial trifunctional protein deficiency | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala233Argfs*12) in the HADHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HADHB are known to be pathogenic (PMID: 9259266, 12754706). This variant is present in population databases (rs745646607, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with HADHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 431822). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV004568625 | SCV004191810 | likely pathogenic | Mitochondrial trifunctional protein deficiency 1 | 2024-03-03 | criteria provided, single submitter | clinical testing |