ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) (rs1555062849)

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
Dan Cohn Lab,University Of California Los Angeles RCV000515895 SCV000612000 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
Dan Cohn Lab,University Of California Los Angeles RCV000516101 SCV000612010 pathogenic Short-rib polydactyly syndrome type I 2017-06-01 no assertion criteria provided research
Invitae RCV000634179 SCV000755479 uncertain significance Jeune thoracic dystrophy 2017-11-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 2470 of the DYNC2H1 protein (p.Ala2470Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYNC2H1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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.