Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440378 | SCV000536153 | uncertain significance | not provided | 2017-01-17 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in an alternative transcript of the NRXN1 gene. The G23D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publically available databases (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G23D 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. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |