ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.206_207AC[3] (p.Ile71fs) (rs727502993)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150551 SCV000197781 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-02-27 criteria provided, single submitter clinical testing The Ile71fs variant in DSP has not been previously reported in individuals with cardiomyopathy or in large population studies. This frameshift variant is predic ted to alter the protein?s amino acid sequence beginning at position 71 and lead ing to a premature termination codon 13 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the DSP gene is an established disease mechanism in individuals wit h ARVC and DCM. In summary, this variant is likely to be pathogenic, though addi tional studies are required to fully establish its clinical 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.