ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) (rs184154918)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154711 SCV000204391 benign not specified 2014-11-06 criteria provided, single submitter clinical testing p.Arg1308Gln in exon 23 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 1.5% (6/394) of Han Chinese chromos omes by the 1000 Genomes Project (dbSNP rs184154918) and in 1.7% (145/8730) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC; http://exac.bro adinstitute.org).
PreventionGenetics,PreventionGenetics RCV000154711 SCV000310358 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297493 SCV000465010 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354640 SCV000465011 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262391 SCV000465012 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301232 SCV000465013 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471904 SCV000555749 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586281 SCV000698434 benign not provided 2017-08-22 criteria provided, single submitter clinical testing Variant summary: The c.3923G>A (p.Arg1308Gln) in the DSP gene is a missense change that involves the alteration of a non- conserved nucleotide and 5/5 in silico tools predict benign outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.001212 (146/ 120504 chrs tested), predominantly in individuals of East Asian descent (0.01648; 142/ 8618 chrs, including 1 homozygotes). The latter frequency exceeds the maximal expected allele frequency for a pathogenic variant in this gene (0.00001). Lastly, several reputable databases/diagnostic centers classified the variant of interest as Benign/Likely Benign. Taking together, the variant was classified as Benign.
Ambry Genetics RCV000619090 SCV000735375 benign Cardiovascular phenotype 2016-05-23 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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000154711 SCV000747969 benign not specified 2017-06-28 criteria provided, single submitter clinical testing
Color RCV000771364 SCV000903659 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852993 SCV000995743 benign Cardiomyopathy; Hypertrophic cardiomyopathy 2017-07-06 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.