Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |