ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His)

gnomAD frequency: 0.00001  dbSNP: rs753983449
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629485 SCV000750429 benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629485 SCV002666037 uncertain significance Primary ciliary dyskinesia 2021-09-09 criteria provided, single submitter clinical testing The p.P4110H variant (also known as c.12329C>A), located in coding exon 75 of the DNAH11 gene, results from a C to A substitution at nucleotide position 12329. The proline at codon 4110 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.