Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000430812 | SCV000535780 | uncertain significance | not provided | 2017-01-13 | criteria provided, single submitter | clinical testing | The H968Y variant in the NRXN1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H968Y variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The H968Y 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 and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H968Y as a variant of uncertain significance. |