ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5924+1G>C

dbSNP: rs886039340
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
GeneDx RCV000255847 SCV000321558 pathogenic not provided 2022-04-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30919572, 32367404)
Invitae RCV000629338 SCV000750273 pathogenic Primary ciliary dyskinesia 2022-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 265099). Disruption of this splice site has been observed in individuals with dextrocardia and/or primary ciliary dyskinesia (PMID: 30919572, 32367404; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a splice site in intron 34 of the DNAH11 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204).
PreventionGenetics, part of Exact Sciences RCV003430812 SCV004116492 pathogenic DNAH11-related condition 2022-11-02 criteria provided, single submitter clinical testing The DNAH11 c.5924+1G>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported to be causative for primary ciliary dyskinesia (Table S1, Al-Dewik et al. 2019. PubMed ID: 30919572; Shamseldin et al. 2020. PubMed ID: 32367404). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in DNAH11 are expected to be pathogenic. This variant is interpreted as 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.