ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) (rs121434251)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003510 SCV000830869 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-03-16 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 231 of the SRD5A2 protein (p.His231Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs121434251, ExAC 0.03%). This variant has been reported to segregate with 5 alpha-reductase 2 deficiency in several families (PMID: 9745434, 28544750, 27899157) and had also been reported in several unrelated, affected individuals (PMID: 1522235, 8706317, 7608269, 8723114). ClinVar contains an entry for this variant (Variation ID: 3346). Experimental studies have shown that this missense change impairs binding of testosterone to the enzyme and reduces enzyme activity (PMID: 8110760.1522235). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003510 SCV000023668 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 RCV000003510 SCV000692400 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-06-12 no assertion criteria provided clinical testing

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