Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557983 | SCV000631423 | uncertain significance | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2017-06-08 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with aspartic acid at codon 129 of the SRD5A2 protein (p.Tyr129Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. In summary, this variant has uncertain impact on SRD5A2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15). This variant has not been reported in the literature in individuals with a SRD5A2-related disease. This variant is not present in population databases (ExAC no frequency). |