Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001216212 | SCV001387996 | uncertain significance | Long QT syndrome | 2019-05-10 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 24321233). This variant has been observed in an individual affected with Brugada syndrome (PMID: 23575362). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 632 of the CACNA1C mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1C protein. |