ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) (rs1553324169)

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Total submissions: 1
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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 2017-06-20 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a SRD5A2-related disease. 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). 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.

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