ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) (rs78652302)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588812 SCV000603390 benign not provided 2018-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621155 SCV000734881 benign Cardiovascular phenotype 2015-06-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038065 SCV000051539 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769233 SCV000900609 benign Cardiomyopathy 2017-08-23 criteria provided, single submitter clinical testing
Color RCV000769233 SCV000902706 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238901 SCV000297159 benign Arrhythmogenic right ventricular cardiomyopathy 2015-07-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038065 SCV000703512 benign not specified 2016-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000038065 SCV000168268 benign not specified 2013-06-08 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 RCV000321367 SCV000465122 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385269 SCV000465123 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290923 SCV000465124 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000238901 SCV000465125 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588812 SCV000698441 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV000234263 SCV000288544 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038065 SCV000061731 benign not specified 2012-02-23 criteria provided, single submitter clinical testing Glu1833Val in exon 24 of DSP: This variant is not expected to have clinical sign ificance because it has been reported in multiple studies and in dbSNP at a freq uency of ~1% (Barahona-Dussault 2010, Gehmlich 2011, Garcia-Pavia 2011, Quarta 2 011, dbSNP rs78652302). In addition, this variant has been identified in 1.3% (9 2/7020) of European American chromosomes from a broad population by the NHLBI Ex ome Sequencing Project (http://evs.gs.washington.edu/EVS).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000238901 SCV000987323 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-12-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038065 SCV000310365 benign not specified criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000038065 SCV000280092 uncertain significance not specified 2011-08-25 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. This variant has been reported in one proband with ARVC who was homozygous for the variant and had no additional variants in the four desmosomal genes that were tested (PKP2, DSP, DSG2 and DSC2) (Brahona-Dussault et al 2010). Notably, the authors list the variant as a polymorphism with a minor allele frequency of 1.5%, though it is unclear where this allele frequency estimate is derived from. There is no segregation data on this variant. This is a non conservative amino acid change with a polar, negative Glutamic acid replaced with a nonpolar, neutral Valine. In silico analysis report conflicting results: SIFT predicts the amino acid change to be tolerated PolyPhen predicts the change to be possibly damaging. It is listed in dbSNP (rs 78652302). In a sample of 2276 individuals, 1.6% were heterozygous for the variant. No homozygotes were reported. Variants in DSP have not been linked to HCM, though they have been linked to both ARVC and DCM.

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