ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys)

dbSNP: rs923729821
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
Fulgent Genetics, Fulgent Genetics RCV001849649 SCV005678355 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005057675 SCV005715626 uncertain significance Jeune thoracic dystrophy 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 3213 of the DYNC2H1 protein (p.Tyr3213Cys). This variant is present in population databases (no rsID available, gnomAD 0.0008%). This missense change has been observed in individual(s) with short-rib thoracic dysplasia (PMID: 30655312). ClinVar contains an entry for this variant (Variation ID: 1344648). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DYNC2H1 protein function with a positive predictive value of 95%. 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.
Yale Center for Mendelian Genomics, Yale University RCV001849649 SCV002106571 pathogenic Asphyxiating thoracic dystrophy 3 2019-01-17 no assertion criteria provided literature only

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.