Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000181337 | SCV000233634 | uncertain significance | not provided | 2016-08-26 | criteria provided, single submitter | clinical testing | The D2060G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D2060N 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 D2060N 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. Two out of three in silico analysis algorithms predict this variant is probably damaging to the protein structure/function. Nevertheless, only one missense mutation in a nearby residue (G2056R) has been reported in association with ARVC and was reported in an individual homozygous for the mutation (Christensen et al., 2010). Based on the currently available information, it is unclear whether the D2060G variant in the DSP gene is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s). |