ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) (rs141834182)

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 RCV000181300 SCV000233591 uncertain significance not provided 2014-11-10 criteria provided, single submitter clinical testing p.Ser823Leu (TCG>TTG): c.2468 C>T in exon 18 of the DSP gene (NM_004415.2). The Ser823Leu variant in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ser823Leu results in a non-conservative amino acid substitution of a neutral, polar Serine with a non-polar Leucine at a position that is class conserved in mammals. In silico algorithms are not consistent in their predictions but at least two concur that Ser823Leu is possibly damaging to the protein structure/function. The Ser823Leu variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Nevertheless, no mutations in nearby residues have been reported in association with ARVC. With the clinical and molecular information available at this time, we cannot definitively determine if Ser823Leu is a disease-causing mutation or a rare benign variant. The variant is found in ARVC, ARRHYTHMIA panel(s).

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.