Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657888 | SCV000779651 | uncertain significance | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing | The A262D variant in the PCDH19 gene has been reported previously in a female with infantile epileptic encephalopathy (Depienne et al., 2012). The A262D variant is not observed in large population cohorts (Lek et al., 2016). The A262D 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret A262D as a variant of uncertain significance |