Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000183490 | SCV000235950 | uncertain significance | not provided | 2014-02-07 | criteria provided, single submitter | clinical testing | p.Leu235His (CTC>CAC): c.704 T>A in exon 4 of the JUP gene (NM_002230.2). The L235H variant in the JUP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The L235H variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The L235 residue is conserved across species. In silico analysis predicts L235H is probably damaging to the protein structure/function. The L235H variant was not observed in approximately 6,500 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 variant is found in ARVC panel(s). |