Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486323 | SCV000573902 | likely pathogenic | not provided | 2017-03-08 | criteria provided, single submitter | clinical testing | The W45X variant in the PDHX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W45X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret W45X as a likely pathogenic variant. |
Fulgent Genetics, |
RCV000762841 | SCV000893200 | likely pathogenic | Pyruvate dehydrogenase E3-binding protein deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing |