ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val)

gnomAD frequency: 0.00005  dbSNP: rs200034783
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 RCV001221755 SCV001393817 uncertain significance Jeune thoracic dystrophy 2021-10-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2498 of the DYNC2H1 protein (p.Ile2498Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs200034783, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002562532 SCV003702301 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.7492A>G (p.I2498V) alteration is located in exon 46 (coding exon 46) of the DYNC2H1 gene. This alteration results from a A to G substitution at nucleotide position 7492, causing the isoleucine (I) at amino acid position 2498 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145414 SCV003830808 uncertain significance Asphyxiating thoracic dystrophy 3 2022-05-10 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.