ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4455G>C (p.Arg1485Ser) (rs113902911)

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 RCV000038040 SCV000061706 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing The p.Arg1485Ser (c.4455G>C) variant in DSP is classified as likely benign becau se another variant (c.4455G>T) resulting in the same amino acid change has been identified in 1.8% (445/23888) of African chromosomes by gnomAD (http://gnomad.b roadinstitute.org). In addition, computational tools suggest that this variant m ay not impact the protein. ACMG/AMP Criteria applied: BP4.

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.