ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs)

dbSNP: rs766816050
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003748242 SCV004559168 pathogenic Jeune thoracic dystrophy 2023-09-17 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: 446597). This premature translational stop signal has been observed in individual(s) with short-rib polydactyly syndrome (PMID: 29068549). This variant is present in population databases (rs766816050, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp4163Lysfs*45) 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, 33755199).
Fulgent Genetics, Fulgent Genetics RCV001291282 SCV005680497 pathogenic Asphyxiating thoracic dystrophy 3 2024-03-26 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV001291282 SCV000611997 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291282 SCV001479731 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004742474 SCV005363905 pathogenic DYNC2H1-related disorder 2024-09-20 no assertion criteria provided clinical testing The DYNC2H1 c.12487_12490delGATA variant is predicted to result in a frameshift and premature protein termination (p.Asp4163Lysfs*45). This variant along with a second variant in this gene has been reported in an individual with short rib-polydactyly syndrome ( Table S2, Zhang et al 2018. PubMed ID: 29068549). This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in DYNC2H1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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.