ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn)

gnomAD frequency: 0.00001  dbSNP: rs768668529
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
GeneDx RCV000236114 SCV000294101 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing The K3581N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K3581N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with DYNC1H1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000552491 SCV000651592 likely benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418048 SCV002721699 uncertain significance Inborn genetic diseases 2021-09-24 criteria provided, single submitter clinical testing The p.K3581N variant (also known as c.10743A>C), located in coding exon 56 of the DYNC1H1 gene, results from an A to C substitution at nucleotide position 10743. The lysine at codon 3581 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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.