ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.332_333del (p.Leu111fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005026515 SCV005663651 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2024-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005026515 SCV005834303 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2024-03-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu111Hisfs*24) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with steroid-5 alpha-reductase deficiency (PMID: 1522235). This variant is also known as delTC at nucleotide 359. For these reasons, this variant has been classified as Pathogenic.

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