ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8111_8113AGA[2] (p.Lys2706del) (rs397516962)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246521 SCV000320344 uncertain significance Cardiovascular phenotype 2016-09-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000461700 SCV000555788 benign not provided 2019-01-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038096 SCV000700572 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000038096 SCV000919295 likely benign not specified 2018-04-23 criteria provided, single submitter clinical testing Variant summary: DSP c.8117_8119delAGA (p.Lys2706del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 0.00057 in 277174 control chromosomes. The observed variant frequency is approximately 57 fold above the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.8117_8119delAGA in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014: one VUS, one likely benign, and one benign. Based on the evidence outlined above, the variant was classified as likely benign.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852998 SCV000995752 likely benign Cardiomyopathy 2018-06-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038096 SCV000061762 uncertain significance not specified 2014-01-30 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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.