ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) (rs137853035)

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
GeneDx RCV000520054 SCV000617825 likely pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing The T1987A variant in the DYNC2H1 gene has been reported previously in three fetuses diagnosed with short rib polydactyly type III in a single family (Dagoneau et al., 2009). The T1987A variant is not observed in large population cohorts (Lek et al., 2016). The T1987A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T1987A as a likely pathogenic variant.
OMIM RCV000006886 SCV000027082 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2009-05-01 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.