ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) (rs121434250)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003509 SCV000631425 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2019-02-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 196 of the SRD5A2 protein (p.Gly196Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs121434250, ExAC 0.04%). This variant has been reported as homozygous, or as heterozygous with a second rare variant in multiple families affected with 5a-reductase type 2 deficiency (PMID: 21147889, 21402750, 18391525, 9745434, 24737579). ClinVar contains an entry for this variant (Variation ID: 3345). Experimental studies have shown that this variant causes a reduced affinity for NADPH and an overall reduction in 5a-reductase enzyme activity (PMID: 1522235). For these reasons, this variant has been classified as Pathogenic.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000003509 SCV000923606 uncertain significance 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000003509 SCV000023667 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1998-09-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000003509 SCV000692393 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2011-04-19 no assertion criteria provided clinical testing

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