ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) (rs9332961)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535535 SCV000631427 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-03-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 203 of the SRD5A2 protein (p.Gly203Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs9332961, ExAC 0.01%). This variant has been reported in many individuals affected with 5alpha-reductase type 2 deficiency (PMID: 9135696, 15266301, 24665940, 25899528), including homozygous individuals (PMID: 15266301, 19342739, 21147889). This variant has also been reported to segregate with disease in multiple families (PMID: 21147889, 2154055, 23329752, 24665940) Experimental studies have shown that this missense change results in reduced enzyme activity (PMID: 21540559). For these reasons, this variant has been classified as Pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000535535 SCV000692395 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2016-04-12 no assertion criteria provided clinical testing

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