ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)

gnomAD frequency: 0.00016  dbSNP: rs117803903
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386425 SCV000468123 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000386425 SCV001230108 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000386425 SCV002655150 uncertain significance Primary ciliary dyskinesia 2021-05-14 criteria provided, single submitter clinical testing The p.P2006L variant (also known as c.6017C>T), located in coding exon 35 of the DNAH11 gene, results from a C to T substitution at nucleotide position 6017. The proline at codon 2006 is replaced by leucine, an amino acid with similar properties. This variant was detected in the heterozygous state in an individual with normal ciliary ultrastructure, who also had a truncating variant in DNAH11 on a different allele; the clinical significance of this finding is unclear (Blanchon S et al. J Med Genet, 2020 04;57:237-244). This amino acid position is highly 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.
Genetics and Molecular Pathology, SA Pathology RCV002466490 SCV002761411 uncertain significance Primary ciliary dyskinesia 7 2019-08-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002466490 SCV003800557 uncertain significance Primary ciliary dyskinesia 7 2022-09-20 criteria provided, single submitter clinical testing The DNAH11 c.6017C>T; p.Pro2006Leu variant (rs117803903) is reported in the literature in an individual with primary ciliary dyskinesia who harbored a truncating variant on the other DNAH11 allele (Blanchon 2020). This variant is also reported in ClinVar (Variation ID: 359639) and is found in the general population with an allele frequency of 0.013% (37/278,996 alleles) in the Genome Aggregation Database. The proline at codon 2006 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.351). Due to limited information, the clinical significance of the p.Pro2006Leu variant is uncertain at this time. References: Blanchon S et al. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. J Med Genet. 2020 Apr;57(4):237-244. PMID: 31772028.

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.