ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003827712 SCV004620967 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala28Leufs*103) 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 present in population databases (rs782761865, gnomAD 20%). This premature translational stop signal has been observed in individual(s) with SRD5A2-related conditions (PMID: 32567554, 36617173). ClinVar contains an entry for this variant (Variation ID: 988311). For these reasons, this variant has been classified as Pathogenic.

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