Submissions for variant NM_000719.7(CACNA1C):c.3049-10C>T

gnomAD frequency: 0.00093  dbSNP: rs186741807

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000587094	SCV000202327	uncertain significance	not provided	2014-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081172	SCV000562920	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587094	SCV000697547	benign	not provided	2017-07-03	criteria provided, single submitter	clinical testing	Variant summary: c.3049-10>T in CACNA1C gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.001174 (142/120926 chrs tested), including 1 homozygote. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.00001, suggesting that it is a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as Likely Benign/Benign by reputable databases/clinical laboratory. Taking together the variant was classified as Benign.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852663	SCV000995369	likely benign	Congestive heart failure	2019-04-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000587094	SCV001472528	benign	not provided	2020-03-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000587094	SCV001939296	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000587094	SCV004132341	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	CACNA1C: BS1
Clinical Genetics, Academic Medical Center	RCV001706014	SCV001917057	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001706014	SCV001955090	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917489	SCV004728899	benign	CACNA1C-related disorder	2019-07-23	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).