ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.13790A>G (p.Asn4597Ser)

gnomAD frequency: 0.00009  dbSNP: rs774818998
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629389 SCV000750327 uncertain significance Primary ciliary dyskinesia 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 4597 of the DNAH8 protein (p.Asn4597Ser). This variant is present in population databases (rs774818998, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with DNAH8-related conditions. ClinVar contains an entry for this variant (Variation ID: 525335). 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 DNAH8 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 RCV004025363 SCV003938746 uncertain significance not specified 2023-06-06 criteria provided, single submitter clinical testing The c.13790A>G (p.N4597S) alteration is located in exon 92 (coding exon 91) of the DNAH8 gene. This alteration results from a A to G substitution at nucleotide position 13790, causing the asparagine (N) at amino acid position 4597 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.