Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV001169922 | SCV001251921 | pathogenic | Congenital bile acid synthesis defect 2 | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV001169922 | SCV004047845 | likely pathogenic | Congenital bile acid synthesis defect 2 | criteria provided, single submitter | clinical testing | The c.796C>T (p.Arg266Ter) stop gained variant in AKR1D1 gene has been submitted to ClinVar as Pathogenic, but no details are available for independent assessment. It has not been reported in affected individuals. This variant is reported with the allele frequency (0.0007%) in the gnomAD and novel in 1000 genome database. The nucleotide change c.796C>T in AKR1D1 is predicted as conserved by GERP++. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |