ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) (rs119481077)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000005153 SCV000481365 pathogenic Testosterone 17-beta-dehydrogenase deficiency 2017-04-27 criteria provided, single submitter clinical testing The HSD17B3 c.238C>T (p.Arg80Trp) variant has been reported in five studies and is found in a total of eight individuals with 17-beta-hydroxysteroid dehydrogenase III deficiency, including six who carried the variant in a homozygous state and two who carried the variant in a compound heterozygous state (Bilbao et al. 1998; Bertelloni et al. 2009; Omrani et al. 2011; George et al. 2011; Chuang et al. 2013). The variant has also been reported in a heterozygous state in at least eight unaffected family members and shown to segregate with disease in an autosomal recessive fashion (Bilbao et al. 1998; Omrani et al. 2011; George et al. 2011). The p.Arg80Trp variant was absent from 42 controls and is reported at a frequency of 0.00005 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence, the p.Arg80Trp variant is classified as pathogenic for 17-beta-hydroxysteroid dehydrogenase III deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514552 SCV000610638 likely pathogenic not provided 2017-05-04 criteria provided, single submitter clinical testing
OMIM RCV000005153 SCV000025330 pathogenic Testosterone 17-beta-dehydrogenase deficiency 1998-09-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000584139 SCV000692114 pathogenic Pseudohermaphroditism 2014-06-02 no assertion criteria provided clinical testing

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