Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533390 | SCV000623982 | uncertain significance | Primary ciliary dyskinesia | 2019-08-08 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 454540). This variant is present in population databases (rs759193789, ExAC 0.008%). This sequence change replaces lysine with arginine at codon 3840 of the DNAH8 protein (p.Lys3840Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. |