Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001332605 | SCV001524980 | pathogenic | Congenital bile acid synthesis defect 1 | 2019-11-19 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV003660891 | SCV004372576 | pathogenic | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu167*) in the HSD3B7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HSD3B7 are known to be pathogenic (PMID: 12679481). This variant is present in population databases (rs560826820, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HSD3B7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030914). For these reasons, this variant has been classified as Pathogenic. |