ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.548-9T>G

gnomAD frequency: 0.00002  dbSNP: rs1057519061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000581602 SCV001510388 uncertain significance 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the SRD5A2 gene. It does not directly change the encoded amino acid sequence of the SRD5A2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with 5α-RD2 deficiency (PMID: 31186340). ClinVar contains an entry for this variant (Variation ID: 375328). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581602 SCV000692390 uncertain significance 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2011-12-05 no assertion criteria provided clinical testing

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