ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)

dbSNP: rs780274878
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179278 SCV001343890 uncertain significance Cardiomyopathy 2023-03-23 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 2056 of the DSP protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). A functional study has shown that this variant causes the protein insoluble in E. coli cells and low expressed in HeLa cells, suggesting the impairment in DSP protein stability (PMID: 35008956). This variant has been reported in homozygous state in an individual affected with arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement (PMID: 20864495). The proband's three children had no cardiac symptoms, who were obligate heterozygous mutation carriers. This variant has been identified in 1/250594 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258160 SCV001435048 uncertain significance Arrhythmogenic right ventricular dysplasia 8 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.