ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) (rs199681901)

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Total submissions: 8
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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 RCV000172530 SCV000050911 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037272 SCV000060929 uncertain significance not specified 2014-08-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Leu594Pro varia nt in DSG2 has been identified in 4/8470 European American chromosomes by the NH LBI Exome Sequencing Project (; dbSNP rs19968190 1). Our laboratory has previously detected this variant in 3 individuals (1 Asia n child with HCM and WPW, 1 Ashkenazi Jewish adult with possible DCM/ARVC, and 1 Ashkenazi Jewish adult with HCM). Leucine (Leu) at position 594 is not conserve d in mammals or evolutionarily distant species, raising the possibility that a c hange at this position may be tolerated. Additional computational prediction too ls suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clini cal significance of the Leu594Pro variant is uncertain, these data suggest that it is more likely to be benign.
Invitae RCV001085411 SCV000561400 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000037272 SCV000714372 likely benign not specified 2018-01-22 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.
Ambry Genetics RCV000618191 SCV000735732 likely benign Cardiovascular phenotype 2018-03-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Color Health, Inc RCV000776195 SCV000911324 benign Cardiomyopathy 2018-08-14 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852742 SCV000995459 likely benign Primary dilated cardiomyopathy 2018-04-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085411 SCV001286958 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2018-05-11 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

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