Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058850 | SCV001223446 | uncertain significance | Primary ciliary dyskinesia | 2020-01-31 | 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: "Possibly 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 DNAH11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 973 of the DNAH11 protein (p.Val973Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. |