Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001382059 | SCV001580666 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | This variant disrupts the C-terminus of the HSD3B2 protein, which has been demonstrated to be critical for enzymatic activity (PMID: 1825279). While functional studies have not been performed to directly test the effect of this variant on HSD3B2 protein function, this suggests that disruption of this region of the protein is causative of disease. ClinVar contains an entry for this variant (Variation ID: 12184). This premature translational stop signal has been observed in individual(s) with adrenal hyperplasia (PMID: 1363812, 27626911). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp171*) in the HSD3B2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 202 amino acid(s) of the HSD3B2 protein. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000012967 | SCV005633197 | pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency | 2024-03-28 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000012967 | SCV000033211 | pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency | 1992-07-01 | no assertion criteria provided | literature only | |
| Natera, |
RCV000012967 | SCV002094666 | pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency | 2021-10-12 | no assertion criteria provided | clinical testing |