ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg)

gnomAD frequency: 0.00001  dbSNP: rs886038918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245759 SCV000319124 uncertain significance Cardiovascular phenotype 2013-11-22 criteria provided, single submitter clinical testing The p.G2003R variant (also known as c.6007G>A) is located in coding exon 46 of the CACNA1C gene. This alteration results from a G to A substitution at nucleotide position 6007. The glycine at codon 2003 is replaced by arginine, an amino acid with dissimilar properties. ​This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. This amino acid position is poorly conserved on sequence alignment.This variant is predicted to be benign by PolyPhen and tolerated by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.G2003R remains unclear.
Invitae RCV001854973 SCV002303817 likely benign Long QT syndrome 2024-01-28 criteria provided, single submitter clinical testing

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