ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) (rs772283403)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529458 SCV000631435 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-05-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 235 of the SRD5A2 protein (p.Tyr235Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is present in population databases (rs772283403, ExAC 0.01%). This variant has been reported in the homozygous or compound heterozygous state in many individuals affected with steroid 5-alpha-reductase 2 deficiency (PMID: 12699446, 25266188, 27070133, 16181229, 21147889, 17609295, 8110760). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Lab, University of California San Francisco RCV000529458 SCV001167590 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-09-27 criteria provided, single submitter clinical testing

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