ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)

gnomAD frequency: 0.00001  dbSNP: rs1060499834
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000469192 SCV000538201 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2015-10-30 criteria provided, single submitter clinical testing the genetype:［c.211C>T（p.Gln71*）］＋［c.680G>A（p.Arg227Gln）］
Invitae RCV000469192 SCV003524206 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-03-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 403724). This premature translational stop signal has been observed in individuals with steroid-5 alpha-reductase deficiency (PMID: 20736251, 22453073). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln71*) in the SRD5A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SRD5A2 are known to be pathogenic (PMID: 1406794, 1944596).

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