Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486993 | SCV000574128 | uncertain significance | not provided | 2017-03-27 | criteria provided, single submitter | clinical testing | The D1948V variant in the SCN2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D1948V variant is observed in 1/10374 (0.01%) alleles [from individuals of African background in the ExAC dataset (Lek et al., 2016). The D1948V 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 within the C-terminal cytoplasmic domain that is not conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D1948V as a variant of uncertain significance. |