Submissions for variant NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)

gnomAD frequency: 0.03558  dbSNP: rs72546667

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171805	SCV000050817	benign	Limb-girdle muscular dystrophy	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039799	SCV000063488	benign	not specified	2012-05-10	criteria provided, single submitter	clinical testing	Gly56Ser in exon 2 of CAV3: This variant is not expected to have clinical signif icance because it has been identified in 10.9% (407/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs72546667)
Eurofins Ntd Llc (ga)	RCV000039799	SCV000114281	benign	not specified	2013-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000039799	SCV000167537	benign	not specified	2011-07-11	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.
PreventionGenetics, part of Exact Sciences	RCV000039799	SCV000315205	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000249765	SCV000318378	benign	Cardiovascular phenotype	2015-07-16	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	RCV000362621	SCV000446411	likely benign	Limb-Girdle Muscular Dystrophy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000119393	SCV000511778	benign	not provided	2016-09-08	criteria provided, single submitter	clinical testing
Invitae	RCV001082614	SCV000560127	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000119393	SCV000602912	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000039799	SCV000841367	benign	not specified	2017-04-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000987086	SCV001136284	likely benign	Long QT syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150159	SCV001311172	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171080	SCV001333750	benign	Cardiomyopathy	2020-07-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496306	SCV002808904	likely benign	Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type	2022-04-18	criteria provided, single submitter	clinical testing
OMIM	RCV000008768	SCV000028977	uncertain significance	Rippling muscle disease 2	2005-01-01	no assertion criteria provided	literature only
Genetic Services Laboratory, University of Chicago	RCV000039799	SCV000150542	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.
Leiden Muscular Dystrophy (CAV3)	RCV000119393	SCV000154300	not provided	not provided		no assertion provided	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000119393	SCV001798728	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039799	SCV001924523	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000039799	SCV001929363	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039799	SCV001959989	benign	not specified		no assertion criteria provided	clinical testing