Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521494 | SCV000621198 | likely pathogenic | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | The H1435L variant in the RERE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H1435L variant is not observed in large population cohorts (Lek et al., 2016). The H1435L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H1435L as a likely pathogenic variant. |
Daryl Scott Lab, |
RCV000681469 | SCV000808918 | likely pathogenic | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2017-09-12 | criteria provided, single submitter | clinical testing |