ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) (rs1561690319)

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
Integrated Genetics/Laboratory Corporation of America RCV000780213 SCV000917296 likely pathogenic Cardiomyopathy 2018-01-25 criteria provided, single submitter clinical testing Variant summary: The DSP c.1825C>T (p.Gln609X) variant results in a premature termination codon, predicted to cause a truncated or absent DSP protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as likely pathogenic/pathogenic by our laboratory (e.g. c.2821C>T (p.Arg941X), c.3337C>T (p.Arg1113X), and c.5126_5127delTC (p.Leu1709fsX24)). This variant is absent frome 246034 control chromosomes (gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor was evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely 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.