ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) (rs150339369)

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Total submissions: 11
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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 RCV000148478 SCV000055163 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2018-04-05 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038008 SCV000061674 uncertain significance not specified 2018-06-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg808Cys var iant in DSP has been reported in 6 individuals: 1 with DCM, 2 with HCM, 1 with L VH, and 2 with ARVC (Lopes 2015, Ng 2013, Al-Jassar 2011, http://arvcdatabase.in fo/, LMM unpublished data). However, this variant has been identified in 0.3% (3 0/10150) of Ashkenazi Jewish chromosomes and 35/126684 European chromosomes, inc luding 1 homozygous individual, by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org/). This variant is reported in ClinVar (Variation I D: 44874). Please note that for diseases with clinical variability, reduced pene trance, or recessive inheritance, pathogenic variants may be present at a low fr equency in the general population.Computational prediction tools and conservatio n analysis suggest that the p.Arg808Cys variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. In summary, while the clinical significance of the p.Arg808Cys variant is uncertain, its fr equency in the general population suggests that it is more likely to be benign. ACMG/AMP Criteria applied: PS4_Moderate, PP3, BS1.
Ambry Genetics RCV000622195 SCV000735485 likely benign Cardiovascular phenotype 2017-11-30 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001084249 SCV000763497 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000777603 SCV000913470 likely benign Cardiomyopathy 2018-06-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000641847 SCV001154633 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159871 SCV001321617 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001159872 SCV001321618 uncertain significance Lethal acantholytic epidermolysis bullosa 2018-01-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001159873 SCV001321619 uncertain significance Skin fragility-woolly hair-palmoplantar keratoderma syndrome 2018-01-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000777603 SCV001333762 uncertain significance Cardiomyopathy 2017-12-05 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148478 SCV000190180 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research

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