Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701977 | SCV000830804 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2018-03-14 | 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"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAH1-related disease. This variant is present in population databases (rs375547860, ExAC 0.004%). This sequence change replaces arginine with cysteine at codon 4096 of the DNAH1 protein (p.Arg4096Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |