ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11363T>C (p.Met3788Thr)

gnomAD frequency: 0.00004  dbSNP: rs374799169
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 RCV001957587 SCV002204812 benign Primary ciliary dyskinesia 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001957587 SCV002606481 uncertain significance Primary ciliary dyskinesia 2023-12-31 criteria provided, single submitter clinical testing The p.M3788T variant (also known as c.11363T>C), located in coding exon 69 of the DNAH11 gene, results from a T to C substitution at nucleotide position 11363. The methionine at codon 3788 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.