ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2487del (p.Phe829fs) (rs794728073)

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 RCV000181174 SCV000233451 pathogenic not provided 2012-07-06 criteria provided, single submitter clinical testing Although the c.2487delT mutation in the DSC2 gene has not been reported previously as a disease-causing mutation, c.2487delT causes a shift in reading frame starting at codon Phenylalanine 829, changing it to a Leucine, and creating a premature stop codon at position 27 of the new reading frame. This mutation is expected to result in an abnormal, truncated protein product from this allele. Other frameshift mutations in the DSC2 gene have been reported in association with ARVC (Van der Zwaag P et al., 2009). In summary, c.2487delT in the DSC2 gene is interpreted as a disease-causing mutation.

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.