Submissions for variant NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)

gnomAD frequency: 0.00049  dbSNP: rs140575619

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723725	SCV000114285	uncertain significance	not provided	2015-10-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000723725	SCV000207772	benign	not provided	2020-10-07	criteria provided, single submitter	clinical testing
Invitae	RCV001082889	SCV000560128	likely benign	Long QT syndrome	2023-12-06	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000157842	SCV000710895	benign	not specified	2017-11-13	criteria provided, single submitter	clinical testing	p.Arg148Gln in exon 2 of CAV3: This variant is not expected to have clinical sig nificance because it has been identified in 0.1% (27/24010) of African chromosom es and 0.1% (33/34402) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs140575619). ACMG/AMP Criteria applied: BA1.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000723725	SCV000987683	uncertain significance	not provided		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001145924	SCV001306633	benign	Caveolinopathy	2017-04-28	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171084	SCV001333754	benign	Cardiomyopathy	2018-03-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326800	SCV002631308	likely benign	Cardiovascular phenotype	2019-08-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Revvity Omics, Revvity	RCV000723725	SCV003829266	uncertain significance	not provided	2024-01-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952529	SCV004767957	likely benign	CAV3-related condition	2022-04-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000723725	SCV001920686	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000723725	SCV001962799	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000723725	SCV002035483	likely benign	not provided		no assertion criteria provided	clinical testing