ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) (rs41302885)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244881 SCV000318901 likely benign Cardiovascular phenotype 2017-08-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Subpopulation frequency in support of benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172544 SCV000051389 likely benign not provided 2013-06-24 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000172544 SCV000280846 likely benign not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000776062 SCV000910710 likely benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038072 SCV000228149 likely benign not specified 2014-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000038072 SCV000233551 benign not specified 2016-12-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000276020 SCV000465158 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314724 SCV000465159 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367032 SCV000465160 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274742 SCV000465161 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226911 SCV000288545 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-03 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415621 SCV000493737 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 8 2015-06-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038072 SCV000061738 likely benign not specified 2015-03-24 criteria provided, single submitter clinical testing p.Asp2070Asn in exon 24 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (393/65968) of European chromo somes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs41302885).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038072 SCV000740335 benign not specified 2017-03-30 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000038072 SCV000280093 uncertain significance not specified 2014-03-26 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. Given the information regarding prevalence in the control population, it is likely this variant is too common to contribute significantly to disease. There are no publications associating this variant with ARVC. The ARVC variant database lists this variant as ‘nonpathogenic’ (http://www.arvcdatabase.info). This is a semi conservative amino acid change with a negatively charged aspartic acid replaced with a neutral asparagine. Aspartic acid is semi conserved at residue 2070 in the DSP gene. In silico analysis (PolyPhen 2) predicts the amino acid change to be probably damaging to protein structure/function. There are no reported missense variants in nearby residues. In total the variant has been seen in 46 of 7,160 laboratory controls, published controls and individuals from publicly available population datasets. This variant is found in 39 of 4,280 (0.91%) European American individuals and 4 of 2,201 (0.81%) African American individuals listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6,500 Caucasian and African American individuals (as of 11/26/13). This variant is listed in dbSNP (rs41302885). Kapplinger et al (2011) did not observe the variant in 427 presumably healthy individuals that they studied.

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