Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171801 | SCV000050810 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
CSER _CC_NCGL, |
RCV000211440 | SCV000212194 | uncertain significance | Brugada syndrome | 2015-03-11 | criteria provided, single submitter | research | |
ARUP Laboratories, |
RCV003333962 | SCV000602905 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617504 | SCV000735311 | likely benign | Cardiovascular phenotype | 2017-11-10 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign) |
Invitae | RCV000631698 | SCV000752782 | uncertain significance | Long QT syndrome | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1865 of the CACNA1C protein (p.Glu1865Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of CACNA1C-related conditions (PMID: 32145446). This variant is also known as c.5617G>A (p.E1873K). ClinVar contains an entry for this variant (Variation ID: 191566). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1C protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV000716928 | SCV000847773 | likely benign | History of neurodevelopmental disorder | 2018-11-28 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Subpopulation frequency in support of benign classification |
Center for Advanced Laboratory Medicine, |
RCV000852665 | SCV000995372 | likely benign | Hypertrophic cardiomyopathy | 2018-12-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003333962 | SCV001148538 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4 |
Clinical Genetics, |
RCV000171801 | SCV001925167 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000171801 | SCV001952075 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000171801 | SCV001971364 | benign | not specified | no assertion criteria provided | clinical testing |