ClinVar Miner

Submissions for variant NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs)

gnomAD frequency: 0.00001  dbSNP: rs786200876
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729135 SCV000856776 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing
3billion RCV000003019 SCV002520981 pathogenic Congenital bile acid synthesis defect 1 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.004%). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with HSD3B7 related disorder (ClinVar ID: VCV000002885). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen RCV000729135 SCV002563331 pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing HSD3B7: PVS1, PM2, PM3
Fulgent Genetics, Fulgent Genetics RCV000003019 SCV002782881 pathogenic Congenital bile acid synthesis defect 1 2022-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407263 SCV004109970 pathogenic HSD3B7-related condition 2023-12-26 criteria provided, single submitter clinical testing The HSD3B7 c.45_46delAG variant is predicted to result in a frameshift and premature protein termination (p.Gly17Leufs*26). This variant was reported in individuals with 3 beta-hydroxysteroid oxidoreductase deficiency or congenital bile acid synthesis defect (for example, see Cheng et al. 2003. PubMed ID: 12679481, reported as 63, ΔAG; Stalke et al. 2018. PubMed ID: 28776642). This variant is reported in 0.013% of alleles in individuals of African descent in gnomAD. Frameshift variants in HSD3B7 are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000003019 SCV000023177 pathogenic Congenital bile acid synthesis defect 1 2003-04-01 no assertion criteria provided literature only

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