ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)

dbSNP: rs905880501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001229175 SCV001401613 pathogenic not provided 2023-05-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln334*) in the HSD3B2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the HSD3B2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with congenital adrenal hyperplasia (PMID: 22343390, 28870780). ClinVar contains an entry for this variant (Variation ID: 956384). This variant disrupts a region of the HSD3B2 protein in which other variant(s) (p.Arg335*) have been determined to be pathogenic (PMID: 18252794). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001833981 SCV003834672 likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2021-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833981 SCV002094677 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2021-07-28 no assertion criteria provided clinical testing

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