ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu)

gnomAD frequency: 0.00006  dbSNP: rs138494768
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
Invitae RCV001321915 SCV001512766 benign Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre RCV001321915 SCV004176749 uncertain significance Primary ciliary dyskinesia 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 2871 of the DNAH5 protein (p.Phe2871Leu). The c.8611T>C variant has a low population allele frequency (gnomAD Genomes, Version 3.1.2: ƒ = 0.0000657). Some in silico pathogenicity prediction tools, like EIGEN, MetaRNN, PROVEAN, FATHMM-MKL, Mutation assessor, predicted the c.8611T>C to be likely deleterious. ClinVar contains an entry for this variant (Variation ID:1022053): it was reported twice in PCD-patients, with conflicting interpretations of pathogenicity. The patient presented in our study carried the c.8611T>C in combination with another likely pathogenic variant in DNAH5 (c.2052+3G>T). 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.
Natera, Inc. RCV001321915 SCV002080840 uncertain significance Primary ciliary dyskinesia 2020-02-13 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.