ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) (rs759318152)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548299 SCV000631428 uncertain significance 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-01-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 208 of the SRD5A2 protein (p.Thr208Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. The frequency data for this variant (rs759318152) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with an 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: "Deleterious"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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