ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10968_10969del (p.Gly3658fs)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002805576 SCV003021116 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2023-06-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly3658Glufs*48) in the DYNC1H1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DYNC1H1 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1986667). 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004763461 SCV005374168 likely pathogenic Intellectual disability, autosomal dominant 13 2024-09-22 criteria provided, single submitter clinical testing
GeneDx RCV004765567 SCV005378671 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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.