Submissions for variant NM_000719.7(CACNA1C):c.2961-5C>T

gnomAD frequency: 0.00003  dbSNP: rs781703710

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000421735	SCV000521759	likely benign	not specified	2015-12-04	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.
Invitae	RCV000869631	SCV001011072	likely benign	Long QT syndrome	2023-05-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436268	SCV002751525	uncertain significance	Cardiovascular phenotype	2019-09-20	criteria provided, single submitter	clinical testing	The c.2961-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 23 in the CACNA1C gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.