Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686428 | SCV000813946 | uncertain significance | Primary ciliary dyskinesia | 2018-05-28 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 2591 of the DNAH11 protein (p.Pro2591Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with a pathogenic variant in DNAH11 in an individual affected with primary ciliary dyskinesia (PMID: 22102620). ClinVar contains an entry for this variant (Variation ID: 36982). 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: "Tolerated"; 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. |
OMIM | RCV000030677 | SCV000053338 | pathogenic | Primary ciliary dyskinesia 7 | 2012-03-01 | no assertion criteria provided | literature only |