ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.2901G>A (p.Glu967=)

gnomAD frequency: 0.00001  dbSNP: rs762902639
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046053 SCV001209938 uncertain significance Primary ciliary dyskinesia 2022-02-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs762902639, gnomAD 0.007%). This sequence change affects codon 967 of the DNAH8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DNAH8 protein. This variant also falls at the last nucleotide of exon 21, which is part of the consensus splice site for this exon. This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 843429).

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.