ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1375G>A (p.Val459Ile) (rs73991549)

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Total submissions: 20
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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 RCV000172744 SCV000055128 benign Primary dilated cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037232 SCV000060889 benign not specified 2012-01-24 criteria provided, single submitter clinical testing Val459Ile in exon 9 of DES: This variant is classified as benign based on its hi gh frequency in the general population (NHLBI Exome Sequencing Project, http://e vs.gs.washington.edu/EVS; dbSNP rs73991549).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037232 SCV000111846 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000037232 SCV000168103 benign not specified 2017-04-24 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.
Invitae RCV001084307 SCV000287218 benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-12-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037232 SCV000308536 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248138 SCV000319162 benign Cardiovascular phenotype 2016-03-26 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000302518 SCV000427738 likely benign Myofibrillar myopathy 1 2017-04-27 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 RCV000366607 SCV000427739 likely benign Neurogenic scapuloperoneal syndrome, Kaeser type 2017-04-27 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 RCV000271115 SCV000427740 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307505 SCV000427741 likely benign Dilated cardiomyopathy 1I 2017-04-27 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770175 SCV000901602 likely benign Cardiomyopathy 2016-07-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283399 SCV001159399 benign none provided 2019-11-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000037232 SCV001475070 benign not specified 2020-02-14 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056791 SCV000087904 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000037232 SCV000150951 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000056791 SCV001744775 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000037232 SCV001921060 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037232 SCV001931027 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000037232 SCV001959980 benign not specified no assertion criteria provided clinical testing

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