ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.867del (p.Met290fs)

gnomAD frequency: 0.00002  dbSNP: rs767167623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857337 SCV002156219 pathogenic not provided 2020-11-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with 3-beta-hydroxysteroid dehydrogenase deficiency (PMID: 10599696). ClinVar contains an entry for this variant (Variation ID: 12193). This variant is present in population databases (rs767167623, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Met290Cysfs*10) in the HSD3B2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the HSD3B2 protein.
Fulgent Genetics, Fulgent Genetics RCV000012976 SCV002793054 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2022-05-05 criteria provided, single submitter clinical testing
OMIM RCV000012976 SCV000033221 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 1999-12-01 no assertion criteria provided literature only

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