Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464820 | SCV000551744 | uncertain significance | Primary ciliary dyskinesia | 2019-05-08 | criteria provided, single submitter | clinical testing | 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"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DNAH11-related disease. This sequence change replaces leucine with phenylalanine at codon 2874 of the DNAH11 protein (p.Leu2874Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. |