ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1109G>A (p.Arg370His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM 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).

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