Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522091 | SCV000619269 | uncertain significance | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | The R2753L variant in the SZT2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2753L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2753L 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 where amino acids with similar properties to Arginine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R2753L as a variant of uncertain significance. |