Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003448839 | SCV004176616 | likely pathogenic | Congenital bile acid synthesis defect 1 | 2023-02-14 | criteria provided, single submitter | clinical testing | The invariant splice donor c.431+2T>C in HSD3B7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.431+2T>C variant is novel (not in any individuals) in 1000 Genomes and gnomAD. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |