Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631620 | SCV000752702 | benign | Long QT syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343206 | SCV002646461 | uncertain significance | Cardiovascular phenotype | 2022-06-14 | criteria provided, single submitter | clinical testing | The p.E1792G variant (also known as c.5375A>G), located in coding exon 42 of the CACNA1C gene, results from an A to G substitution at nucleotide position 5375. The glutamic acid at codon 1792 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002507061 | SCV002815554 | uncertain significance | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-09-16 | criteria provided, single submitter | clinical testing |