ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3281T>A (p.Val1094Asp)

gnomAD frequency: 0.00018  dbSNP: rs369213196
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
Invitae RCV000806984 SCV000947008 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000806984 SCV002611493 uncertain significance Primary ciliary dyskinesia 2022-07-03 criteria provided, single submitter clinical testing The p.V1094D variant (also known as c.3281T>A), located in coding exon 17 of the DNAH11 gene, results from a T to A substitution at nucleotide position 3281. The valine at codon 1094 is replaced by aspartic acid, an amino acid with highly dissimilar 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.