ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) (rs9332960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000500379 SCV000597255 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000500379 SCV000631420 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2019-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 6 (p.Gln6*) of 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. This variant has been reported to be homozygous or compound heterozygous in several individuals affected with steroid 5-alpha-reductase deficiency (PMID: 12576851, 20190539, 21540559, 18314109). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000578706 SCV000680882 pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing The Q6X nonsense variant in the SRD5A2 gene has been reported previously in both the compound heterozgyous and homozgyous state in association with 5-Alpha Reductase Deficiency type 2 (Sasaki et al., 2003; Wang et al., 2004; Sahakitrunguang et al., 2008; Nie et al., 2011; Zhu et al., 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, the Q6X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016).
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000500379 SCV000692376 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2011-01-26 no assertion criteria provided clinical testing

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