ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) (rs368260932)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230314 SCV000287026 pathogenic Primary ciliary dyskinesia 2020-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2900*) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs368260932, ExAC 0.009%). This variant has been reported in the literature in individuals affected with primary ciliary dyskinesia (PMID: 22102620, 24450482, 26139845). This variant is also known as R2907X in the literature. ClinVar contains an entry for this variant (Variation ID: 36981). Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). For these reasons, this variant has been classified as Pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV000030676 SCV001441561 pathogenic Ciliary dyskinesia, primary, 7 2020-10-20 criteria provided, single submitter clinical testing This nonsense variant results in a premature stop codon in exon 53, likely leading to nonsense-mediated decay and lack of protein production. DNAH11 c.8698C>T has been reported in numerous patients presenting with primary ciliary dyskinesia. This variant (rs368260932) is rare (<0.1%) in a large population dataset (gnomAD: 13/280318 total alleles; 0.005%; no homozygotes) and has been reported in ClinVar. We consider this variant to be pathogenic.
OMIM RCV000030676 SCV000053337 pathogenic Ciliary dyskinesia, primary, 7 2012-03-01 no assertion criteria provided literature only
Institute of Human Genetics, Klinikum rechts der Isar RCV000030676 SCV001149760 pathogenic Ciliary dyskinesia, primary, 7 2020-01-16 no assertion criteria provided clinical testing

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.