Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695743 | SCV000824260 | uncertain significance | Primary ciliary dyskinesia | 2018-02-13 | criteria provided, single submitter | clinical testing | 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. 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 has not been reported in the literature in individuals with DNAH8-related disease. This variant is present in population databases (rs376907315, ExAC 0.01%). This sequence change replaces threonine with methionine at codon 531 of the DNAH8 protein (p.Thr531Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. |