Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003338018 | SCV004048555 | likely pathogenic | Congenital bile acid synthesis defect 1 | criteria provided, single submitter | clinical testing | The stop gained p.Q69* in HSD3B7 (NM_025193.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Q69* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. The p.Q69* variant is a loss of function variant in the gene HSD3B7, which is intolerant of Loss of Function variants. The nucleotide change in HSD3B7 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic. The observed variant is also detected in the spouse. |