Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857337 | SCV002156219 | pathogenic | not provided | 2020-11-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the HSD3B2 protein. Other variant(s) that disrupt this region (p.Arg335*) have been determined to be pathogenic (PMID: 18252794, 31006099). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with 3-beta-hydroxysteroid dehydrogenase deficiency (PMID: 10599696). ClinVar contains an entry for this variant (Variation ID: 12193). This variant is present in population databases (rs767167623, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Met290Cysfs*10) in the HSD3B2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the HSD3B2 protein. |
Fulgent Genetics, |
RCV000012976 | SCV002793054 | pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency | 2022-05-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000012976 | SCV000033221 | pathogenic | 3 beta-Hydroxysteroid dehydrogenase deficiency | 1999-12-01 | no assertion criteria provided | literature only |