ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) (rs28763967)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000434359 SCV000883749 benign not provided 2017-07-21 criteria provided, single submitter clinical testing
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000584761 SCV000692515 benign Arrhythmogenic right ventricular cardiomyopathy; Sudden unexplained death 2017-03-15 criteria provided, single submitter research The DSP Arg1537Cys variant has a high frequency in the 1000 genomes project (MAF= 0.0036; http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (MAF= 0.0091; http://exac.broadinstitute.org/). Furthermore, although his variant was identified in a sudden death patient with ARVC/D on postmortem it did not segregate with disease in an affected ARVC family member. As a result we classify the DSP Arg1537Cys variant as "benign".
Ambry Genetics RCV000621921 SCV000734887 benign Cardiovascular phenotype 2015-10-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038052 SCV000051537 benign not specified 2013-06-24 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434359 SCV000511209 likely benign not provided 2017-01-03 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000776035 SCV000910630 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331603 SCV000465062 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388441 SCV000465063 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296538 SCV000465064 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344492 SCV000465065 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229900 SCV000288540 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038052 SCV000061718 benign not specified 2010-09-21 criteria provided, single submitter clinical testing Arg1537Cys in exon 23 of DSP: This missense variant has been reported in the SN P database with a frequency of 5.6% (dbSNP; rs28763967). While we cannot exclude the possibility that this variant contributes to disease, its high frequency su ggests that it is more likely benign.
PreventionGenetics RCV000038052 SCV000310362 benign not specified 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.