ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) (rs767128094)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603955 SCV000731306 likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2016-12-19 criteria provided, single submitter clinical testing The p.Trp355X variant in HSD3B2 has been reported in a homozygous individual wit h clinical features of 3-beta (?)-hydroxysteroid dehydrogenase (HSD) deficiency (Welzel 2008). The p.Trp355X variant has been identified in 1/6498 of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit; dbSNP rs767128094). This nonsense variant leads to a premature terminat ion codon at position 355, which is predicted to lead to a truncated or absent p rotein. Biallelic loss of function of the HSD3B2 gene has been associated with H SD deficiency. In vitro studies provide evidence that this variant leads to a tr uncated protein which impacts protein function (Welzel 2008). However, these typ es of assays may not accurately represent biological function. In summary, alth ough additional studies are required to fully establish a null effect on the pro tein, the p.Trp355X variant in HSD3B2 is likely pathogenic for 3-beta (?)-hydrox ysteroid dehydrogenase (HSD) deficiency in an autosomal recessive manner based u pon its predicted impact on protein function.

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