ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.792_796del (p.Tyr264_Asn266delinsTer)

dbSNP: rs2101350289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007385 SCV002232346 pathogenic not provided 2021-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr264*) in the HSD3B2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 109 amino acid(s) of the HSD3B2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HSD3B2-related conditions. This variant disrupts the C-terminus of the HSD3B2 protein. Other variant(s) that disrupt this region (p.Arg335*) have been determined to be pathogenic (PMID: 18252794, 31006099). This suggests that variants that disrupt this region of the protein are likely to be causative of disease.
Fulgent Genetics, Fulgent Genetics RCV005006306 SCV005643031 likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2024-02-26 criteria provided, single submitter clinical testing

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