ClinVar Miner

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

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038052 SCV000051537 benign not specified 2013-06-24 criteria provided, single submitter research
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.
Invitae RCV001080033 SCV000288540 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038052 SCV000310362 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331603 SCV000465062 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000388441 SCV000465063 benign Skin fragility-woolly hair-palmoplantar keratoderma syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000296538 SCV000465064 benign Lethal acantholytic epidermolysis bullosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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.
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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000038052 SCV000883749 benign not specified 2018-07-25 criteria provided, single submitter clinical testing
Color RCV000776035 SCV000910630 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 RCV000852996 SCV000995747 benign Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome 2019-02-16 criteria provided, single submitter clinical testing

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