ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.171-4T>C

gnomAD frequency: 0.00001  dbSNP: rs1554105598
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605199 SCV000719232 likely benign not specified 2018-03-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000621407 SCV000738247 uncertain significance Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing The c.171-4T>C intronic variant results from a T to C substitution 4 nucleotides upstream from exon 2 in the DSP gene. This nucleotide position is not well conserved in available vertebrate species. This alteration is predicted to slightly weaken the efficiency of the native splice acceptor site by the BDGP splice prediction tool, but ESEfinder predicts a strengthening of the native splice acceptor site; direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001180598 SCV001345557 likely benign Cardiomyopathy 2022-11-18 criteria provided, single submitter clinical testing
Invitae RCV001395294 SCV001596999 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-17 criteria provided, single submitter clinical testing

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.