ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4383G>A (p.Glu1461=) (rs140029036)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620886 SCV000734869 likely benign Cardiovascular phenotype 2015-08-14 criteria provided, single submitter clinical testing
Color RCV000776085 SCV000910835 benign Cardiomyopathy 2018-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000038042 SCV000233542 benign not specified 2014-06-11 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 RCV000264780 SCV000465038 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322203 SCV000465039 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379848 SCV000465040 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278376 SCV000465041 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229433 SCV000288537 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038042 SCV000061708 likely benign not specified 2012-03-22 criteria provided, single submitter clinical testing Glu1461Glu in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.2% (15/7020) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs140029036). Glu1461Glu in exon 23 of DSP (rs140029036; allele frequency = 0.2%, 15/7020) **

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