ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7865G>A (p.Arg2622Gln)

gnomAD frequency: 0.00030  dbSNP: rs200587980
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001216433 SCV001388230 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2622 of the DNAH1 protein (p.Arg2622Gln). This variant is present in population databases (rs200587980, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DNAH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 945725). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DNAH1 protein function. 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.
Ambry Genetics RCV004033997 SCV003870023 uncertain significance not specified 2023-02-17 criteria provided, single submitter clinical testing The c.7865G>A (p.R2622Q) alteration is located in exon 50 (coding exon 49) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 7865, causing the arginine (R) at amino acid position 2622 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481000 SCV004226119 uncertain significance not provided 2023-01-31 criteria provided, single submitter 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.