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

gnomAD frequency: 0.01628  dbSNP: rs61147808

Total submissions: 18

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	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	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: seen in unaffected individuals, 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	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