ClinVar Miner

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

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Total submissions: 16
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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 RCV001084754 SCV000288542 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363258 SCV000465094 likely benign Lethal acantholytic epidermolysis bullosa 2018-05-31 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000405736 SCV000465095 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-05-31 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000314923 SCV000465096 likely benign Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369571 SCV000465097 likely benign Skin fragility-woolly hair-palmoplantar keratoderma syndrome 2018-05-31 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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 2018-09-13 criteria provided, single submitter clinical testing 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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172542 SCV001154649 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing

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