Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047406 | SCV001211363 | uncertain significance | Primary ciliary dyskinesia | 2019-01-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with arginine at codon 861 of the DNAH8 protein (p.Gln861Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. |