ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6860G>A (p.Arg2287His)

gnomAD frequency: 0.00001  dbSNP: rs760638746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002001867 SCV002214925 uncertain significance Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2287 of the DNAH1 protein (p.Arg2287His). This variant is present in population databases (rs760638746, gnomAD 0.01%). 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: 1435541). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004042916 SCV003719962 uncertain significance not specified 2022-04-07 criteria provided, single submitter clinical testing The c.6860G>A (p.R2287H) alteration is located in exon 44 (coding exon 43) of the DNAH1 gene. This alteration results from a G to A substitution at nucleotide position 6860, causing the arginine (R) at amino acid position 2287 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004720984 SCV005328212 uncertain significance not provided 2024-02-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV004720984 SCV005409237 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing PM2

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.