ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622195 SCV000735485 likely benign Cardiovascular phenotype 2017-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
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
CSER_CC_NCGL; University of Washington Medical Center RCV000148478 SCV000190180 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research
Color RCV000777603 SCV000913470 likely benign Cardiomyopathy 2018-06-27 criteria provided, single submitter clinical testing
Invitae RCV000641847 SCV000763497 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-10-24 criteria provided, single submitter clinical testing
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DCM, 2 with HCM, 1 with L VH, and 2 with ARVC (Lopes 2015, Ng 2013, Al-Jassar 2011, http://arvcdatabase.in fo/, LMM unpublished data).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.

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