ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His)

gnomAD frequency: 0.00009  dbSNP: rs191869845
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
Invitae RCV001246533 SCV001419892 likely benign Jeune thoracic dystrophy 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166547 SCV003862523 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.4020G>T (p.Q1340H) alteration is located in exon 26 (coding exon 26) of the DYNC2H1 gene. This alteration results from a G to T substitution at nucleotide position 4020, causing the glutamine (Q) at amino acid position 1340 to be replaced by a histidine (H). 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.