Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523632 | SCV000619937 | uncertain significance | not provided | 2017-08-15 | criteria provided, single submitter | clinical testing | The D367Y variant in the FGFR3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D367Y variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D367Y 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. While this substitution occurs at a position that is not conserved, in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D367Y as a variant of uncertain significance. |