Description
The c.3002_3003delGCinsTT variant has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.3002_3003delGCinsTT variant in the ADAR gene causes a substitution of Leucine for Arginine at codon 1001, denoted p.R1001L. A nucleotide change (c.3002 G>Y) resulting in the same amino acid substitution (R1001L) as well as another missense variant at the same codon (R1001C) have been reported as heterozygous variants in families with autosomal dominant dyschromatosis symmetrica hereditaria (Lai et al., 2012; Liu et al., 2014). The c.3002_3003delGCinsTT 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 c.3002_3003delGCinsTT (aka p.R1001L) 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret c.3002_3003delGCinsTT as a likely pathogenic variant.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
