ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg)

dbSNP: rs141696238
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 RCV001858607 SCV002247801 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2021-08-31 criteria provided, single submitter clinical testing 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. 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 DYNC1H1 protein function. ClinVar contains an entry for this variant (Variation ID: 800749). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 3922 of the DYNC1H1 protein (p.Pro3922Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984908 SCV001132815 uncertain significance Intellectual disability, autosomal dominant 13 2019-01-29 no assertion criteria provided 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.