Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003337723 | SCV004047940 | uncertain significance | Congenital bile acid synthesis defect 3 | criteria provided, single submitter | clinical testing | The c.1109G>A (p.Arg370His) missense variant in CYP7B1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg370His variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arg at position 370 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg370His in CYP7B1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). |