ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) (rs138329459)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620878 SCV000735576 benign Cardiovascular phenotype 2017-03-27 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172546 SCV000050926 likely benign not provided 2013-06-24 criteria provided, single submitter research
Color RCV000777790 SCV000913774 benign Cardiomyopathy 2018-10-20 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203133 SCV000257971 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-05-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038105 SCV000859697 benign not specified 2018-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000038105 SCV000725402 benign not specified 2017-02-06 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 RCV000203133 SCV000465254 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392037 SCV000465255 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278214 SCV000465256 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337923 SCV000465257 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000172546 SCV000698451 benign not provided 2017-03-06 criteria provided, single submitter clinical testing Variant summary: The DSP c.8455A>C (p.Met2819Leu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant . This variant was found in 212/122592 control chromosomes (2 homozygotes), predominantly observed in the Latino subpopulation at a frequency of 0.014686 (170/11576). This frequency is about 1469 times the estimated maximal expected allele frequency of a pathogenic DSP variant (0.00001), strong evidence that this is likely a benign polymorphism found primarily in the populations of Latino origin. The variant has been reported in patients and controls in the literature, without strong evidence for causality, and in some cases classified as a polymorphism/neutral. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
Invitae RCV000234024 SCV000288550 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038105 SCV000061771 benign not specified 2017-09-11 criteria provided, single submitter clinical testing p.Met2819Leu in Exon 24 of DSP: This variant is not expected to have clinical si gnificance because it has been identified in 1.25% (428/34228) Latino chromosome s by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs138329459).

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