Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000003513 | SCV003004042 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2022-07-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change affects SRD5A2 function (PMID: 8110760). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 3349). This variant is also known as E197D . This missense change has been observed in individual(s) with Steroid-5 alpha-reductase deficiency (PMID: 8262007, 10999800, 20019388; Inivitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs121434253, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 197 of the SRD5A2 protein (p.Glu197Asp). |
OMIM | RCV000003513 | SCV000023671 | pathogenic | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2000-09-01 | no assertion criteria provided | literature only |