Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003340907 | SCV004047744 | uncertain significance | Congenital bile acid synthesis defect 2 | criteria provided, single submitter | clinical testing | The missense variant c.949C>T (p.His317Tyr) in AKR1D1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His317Tyr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid His at position 317 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.His317Tyr in AKR1D1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. |