ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7308T>A (p.Asp2436Glu)

dbSNP: rs1581823824
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000853451 SCV000996362 uncertain significance Primary dilated cardiomyopathy 2017-04-06 criteria provided, single submitter research The DSP Asp2436Glu variant has not been reported previously, and is absent from the 1000 genomes project (http://www.1000genomes.org/), as well as the large Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). Our lab has identified this variant in 1 DCM proband, as well as one affected sibling. Computational tools SIFT, PolyPhen2 and MutationTaster predict this variant to be deleterious. There is not enough evidence to fully support either a benign or pathogenic role, therefore we classify DSP Asp2436Glu 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.