ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)

dbSNP: rs80358216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382059 SCV001580666 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 12184). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the HSD3B2 protein, which has been demonstrated to be critical for enzymatic activity (PMID: 1825279). While functional studies have not been performed to directly test the effect of this variant on HSD3B2 protein function, this suggests that disruption of this region of the protein is causative of disease. This premature translational stop signal has been observed in individual(s) with adrenal hyperplasia (PMID: 1363812, 27626911). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp171*) in the HSD3B2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 202 amino acid(s) of the HSD3B2 protein.
OMIM RCV000012967 SCV000033211 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 1992-07-01 no assertion criteria provided literature only
Natera, Inc. RCV000012967 SCV002094666 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2021-10-12 no assertion criteria provided clinical testing

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