ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs)

dbSNP: rs1380132788
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 RCV000515929 SCV004540573 pathogenic Jeune thoracic dystrophy 2023-03-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 446588). This premature translational stop signal has been observed in individual(s) with autosomal recessive asphyxiating thoracic dystrophy (aka Jeune syndrome) (PMID: 29068549). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1976Leufs*17) in the DYNC2H1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYNC2H1 are known to be pathogenic (PMID: 23339108, 32753734).
Dan Cohn Lab, University Of California Los Angeles RCV000515929 SCV000611983 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515929 SCV001479573 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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.