ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) (rs121434248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000003506 SCV000692397 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2009-10-05 no assertion criteria provided clinical testing
Invitae RCV000003506 SCV000631430 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg227*) in the SRD5A2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121434248, ExAC 0.02%). This variant has been reported as homozygous or in combination with another SRD5A2 variant in  individuals (PMID: 21402750, 27070133) and families (PMID: 9066886, 1522235) affected with 5α-reductase-2 deficiency. ClinVar contains an entry for this variant (Variation ID: 3342). Loss-of-function variants in SRD5A2 are known to be pathogenic (PMID: 1944596, 1406794). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003506 SCV000023664 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1997-03-03 no assertion criteria provided literature only

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