Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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. |
Ce |
RCV000729135 | SCV002563331 | pathogenic | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | HSD3B7: PVS1, PM2, PM3 |
Fulgent Genetics, |
RCV000003019 | SCV002782881 | pathogenic | Congenital bile acid synthesis defect 1 | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Prevention |
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 |