Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236409 | SCV000294110 | uncertain significance | not provided | 2017-01-30 | criteria provided, single submitter | clinical testing | The D106N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The 1000 Genomes Project Consortium reports D106N was observed in 1/198 alleles from individuals of Esan in Nigeria background, while the Exome Aggregation Consortium (ExAC), reports D106N was observed in 0.15% of alleles from individuals of East Asian background including one homozygous individual. The D106N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001082575 | SCV000762737 | likely benign | Charcot-Marie-Tooth disease, dominant intermediate B | 2019-12-31 | criteria provided, single submitter | clinical testing |