Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521608 | SCV000620597 | uncertain significance | not provided | 2017-09-05 | criteria provided, single submitter | clinical testing | The R798Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R798Q variant is observed in 1/66,728 (0.002%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This 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; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with DYNC1H1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
Invitae | RCV001215209 | SCV001386939 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456015 | SCV002738458 | uncertain significance | Inborn genetic diseases | 2022-02-14 | criteria provided, single submitter | clinical testing | The p.R798Q variant (also known as c.2393G>A), located in coding exon 8 of the DYNC1H1 gene, results from a G to A substitution at nucleotide position 2393. The arginine at codon 798 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |