Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001953764 | SCV002240769 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SRD5A2 protein in which other variant(s) (p.Arg246Gln) have been determined to be pathogenic (PMID: 1522235, 20493473, 26446026). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SRD5A2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the SRD5A2 gene. The 5' boundary is likely confined to intron 4. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. |