ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) (rs142429411)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038010 SCV000061676 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing p.Arg866Cys in exon 18 of DSP: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (71/10402) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs142429411).
GeneDx RCV000038010 SCV000233537 likely benign not specified 2017-10-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238965 SCV000297153 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242786 SCV000320071 likely benign Cardiovascular phenotype 2019-02-04 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000372307 SCV000464934 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263694 SCV000464935 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318707 SCV000464936 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000238965 SCV000464937 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000590388 SCV000555761 benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590388 SCV000698422 likely benign not provided 2017-03-06 criteria provided, single submitter clinical testing Variant summary: The DSP c.2596C>T (p.Arg866Cys) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution. 4/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). The variant resides outside of any known functional domain (InterPro). This variant was found in 75/122246 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.006826 (71/10402). This frequency is about 683 times the estimated maximal expected allele frequency of a pathogenic DSP variant (0.00001), suggesting this is likely a benign polymorphism found primarily in populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000238965 SCV000747973 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-11-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769221 SCV000900597 likely benign Cardiomyopathy 2017-02-14 criteria provided, single submitter clinical testing
Color RCV000769221 SCV000904537 benign Cardiomyopathy 2018-10-20 criteria provided, single submitter clinical testing

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