ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7873dup (p.Thr2625fs) (rs794728149)

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
GeneDx RCV000181372 SCV000233673 pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing Although the c.7873dupA variant in the DSP gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Threonine 2625, changing it to an Asparagine, and creating a premature stop codon at position 19 of the new reading frame, denoted p.Thr2625AsnfsX19. This variant is expected to result in an abnormal, truncated protein product. Other frameshift variants in the DSP gene have been reportedin association with ARVC. In summary, c.7873dupA in the DSP gene is interpreted as a pathogenic variant.

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.