Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000485018 | SCV000572015 | likely pathogenic | not provided | 2016-10-18 | criteria provided, single submitter | clinical testing | The E31V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. However, a different variant at the same position (E31K) has been reported previously as a de novo variant in a female with seizures and developmental delay (van Harssel et al., 2013). Although the E31V variant was not observed in approximately 6,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, the data was noted to have reduced depth of sequencing reads and therefore may be unreliable. The E31V 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |