ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.171G>A (p.Val57=)

gnomAD frequency: 0.01628  dbSNP: rs61147808
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000039800 SCV000063489 benign not specified 2012-05-10 criteria provided, single submitter clinical testing Val57Val in exon 2 of CAV3: This variant is not expected to have clinical signif icance because it has been identified in 5.1% (193/3738) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS/; dbSNP rs61147808)
Eurofins NTD LLC (GA) RCV000039800 SCV000114282 benign not specified 2013-07-24 criteria provided, single submitter clinical testing
Invitae RCV000233807 SCV000291177 benign Long QT syndrome 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039800 SCV000315206 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251608 SCV000318656 benign Cardiovascular phenotype 2015-07-15 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 Laboratory Services,Illumina RCV000267755 SCV000446412 likely benign Limb-Girdle Muscular Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000322919 SCV000446413 likely benign Caveolinopathy 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000024398 SCV000699767 benign not provided 2017-03-20 criteria provided, single submitter clinical testing Variant summary: The CAV3 c.171G>A (p.Val57Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 611/121006 control chromosomes (26 homozygotes) at a frequency of 0.0050493, which is approximately 202 times the estimated maximal expected allele frequency of a pathogenic CAV3 variant (0.000025), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
Athena Diagnostics Inc RCV000039800 SCV000841368 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769169 SCV000900544 benign Cardiomyopathy 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000024398 SCV001945349 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000024398 SCV002047822 benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (CAV3) RCV000024398 SCV000045692 not provided not provided 2012-04-15 no assertion provided curation
Genetic Services Laboratory,University of Chicago RCV000039800 SCV000150543 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.
Clinical Genetics, Academic Medical Center RCV000039800 SCV001921966 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039800 SCV001955995 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039800 SCV001975235 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000024398 SCV002035481 likely benign not provided no assertion criteria provided clinical testing

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