Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389145 | SCV001590402 | pathogenic | Mitochondrial trifunctional protein deficiency | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg33*) 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 (rs752264795, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features consistent with mitochondrial trifunctional protein deficiency (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1075534). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001389145 | SCV004191815 | pathogenic | Mitochondrial trifunctional protein deficiency | 2023-09-20 | criteria provided, single submitter | clinical testing |