ClinVar Miner

Submissions for variant NM_018719.5(CDCA7L):c.*1246G>A

gnomAD frequency: 0.00004  dbSNP: rs72658835
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic and Experimental Medicine, University of Edinburgh RCV001268926 SCV001334263 likely pathogenic Primary ciliary dyskinesia 2020-04-01 criteria provided, single submitter research
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV001594411 SCV001499938 pathogenic Primary ciliary dyskinesia 7 2020-12-20 criteria provided, single submitter clinical testing
Invitae RCV001268926 SCV001574405 likely pathogenic Primary ciliary dyskinesia 2020-02-25 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 4458 of the DNAH11 protein (p.Pro4458Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs72658835, ExAC 0.05%). This variant has been observed in individual(s) with clinical features of DNAH11-related conditions (PMID: 22184204, 29997923, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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: Not Available; PolyPhen-2: Probably Damaging; Align-GVGD: Not Available). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.