ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile)

gnomAD frequency: 0.00001  dbSNP: rs768270021
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170784 SCV000223339 uncertain significance not provided 2020-04-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 190646; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV000619791 SCV000737943 uncertain significance Cardiovascular phenotype 2022-07-25 criteria provided, single submitter clinical testing The p.V622I variant (also known as c.1864G>A), located in coding exon 13 of the CACNA1C gene, results from a G to A substitution at nucleotide position 1864. The valine at codon 622 is replaced by isoleucine, an amino acid with highly similar properties. According to data from gnomAD, the frequency for this variant is above the maximum credible frequency for a cardiac disease-causing variant in this gene based on internally established thresholds (Karczewski et al. Nature. 2020 May;581(7809):434-443; Whiffin et al. Genet Med. 2017 10;19:1151-1158). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, the association of this alteration with CACNA1C-related neurodevelopmental disorder is unknown; however, the association with CACNA1C-related Timothy syndrome or long QT syndrome is unlikely.
Invitae RCV000805998 SCV000945976 likely benign Long QT syndrome 2023-07-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.