rs1555839474

Description

The D630V variant in the PLCB4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D630V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D630V 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 D630V as a likely pathogenic variant.