Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000581602 | SCV001510388 | uncertain significance | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 of the SRD5A2 gene. It does not directly change the encoded amino acid sequence of the SRD5A2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with 5α-RD2 deficiency (PMID: 31186340). ClinVar contains an entry for this variant (Variation ID: 375328). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Clinical Molecular Genetics Laboratory, |
RCV000581602 | SCV000692390 | uncertain significance | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2011-12-05 | no assertion criteria provided | clinical testing |