ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) (rs121434252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003512 SCV000631429 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-08-01 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 212 of the SRD5A2 protein (p.Pro212Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs121434252, ExAC 0.07%). This variant has been reported in many individuals affected with disorders of sex development (PMID: 8110760, 8262007, 9135696, 10718838, 10999800, 20019388) and is suspected to be a founder mutation in the Mexican population (PMID: 20019388). ClinVar contains an entry for this variant (Variation ID: 3348). Experimental studies have shown that this missense change results in loss of enzyme activity (PMID: 8110760, 24665940). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003512 SCV000023670 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2000-09-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000003512 SCV000692396 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2010-03-17 no assertion criteria provided clinical testing

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