ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) (rs147415451)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172542 SCV000050923 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154715 SCV000204395 likely benign not specified 2018-04-10 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000154715 SCV000233546 likely benign not specified 2018-02-08 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.
Blueprint Genetics RCV000154715 SCV000263876 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing
Invitae RCV000172542 SCV000288542 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363258 SCV000465094 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405736 SCV000465095 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314923 SCV000465096 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369571 SCV000465097 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000172542 SCV000698438 likely benign not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The DSP c.5178C>A (p.Asn1726Lys) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a benign outcome for this variant (SNPs&GO and MutationTaster not captured due to low reliability index). This variant was found in 106/121670 control chromosomes at a frequency of 0.0008712, which is approximately 87 times the estimated maximal expected allele frequency of a pathogenic DSP variant (0.00001), suggesting this variant is likely a benign polymorphism. The variant has been reported in the literature, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Ambry Genetics RCV000618693 SCV000734865 likely benign Cardiovascular phenotype 2017-01-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769231 SCV000900607 uncertain significance Cardiomyopathy 2016-05-10 criteria provided, single submitter clinical testing
Color RCV000769231 SCV000911150 likely benign Cardiomyopathy 2018-04-07 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000172542 SCV000987342 likely benign not provided criteria provided, single submitter clinical testing
Klaassen Lab,Charite University Medicine Berlin RCV000853150 SCV000995863 uncertain significance Primary dilated cardiomyopathy 2019-07-03 criteria provided, single submitter research

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