ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)

dbSNP: rs780953141
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641818 SCV000763468 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-07-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770248 SCV000901679 uncertain significance Cardiomyopathy 2019-09-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770248 SCV001345246 uncertain significance Cardiomyopathy 2022-12-19 criteria provided, single submitter clinical testing This missense variant replaces serine with cysteine at codon 1520 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 8/250220 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.
GeneDx RCV003322801 SCV004028132 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV003372782 SCV004085970 uncertain significance Cardiovascular phenotype 2023-07-06 criteria provided, single submitter clinical testing The p.S1520C variant (also known as c.4558A>T), located in coding exon 23 of the DSP gene, results from an A to T substitution at nucleotide position 4558. The serine at codon 1520 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.