Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475353 | SCV000553021 | uncertain significance | Long QT syndrome | 2019-09-19 | 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. This variant has been reported to affect CACNA1C protein function (PMID: 30172029). This variant has been observed in individuals with Brugada syndrome and individuals with long QT syndrome (LQTS) (PMID: 20817017, 30662450, 30172029, Invitae). ClinVar contains an entry for this variant (Variation ID: 67554). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1115 of the CACNA1C protein (p.Glu1115Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. |
Fulgent Genetics, |
RCV002490650 | SCV002784913 | uncertain significance | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2022-04-20 | criteria provided, single submitter | clinical testing | |
Cardiovascular Biomedical Research Unit, |
RCV000058287 | SCV000089807 | not provided | Brugada syndrome | no assertion provided | literature only | This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20817017). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory. | |
Gene |
RCV001795047 | SCV002034734 | not provided | Timothy syndrome | no assertion provided | literature only | Brugada syndrome | |
OMIM | RCV001795047 | SCV002576505 | pathogenic | Timothy syndrome | 2022-09-29 | no assertion criteria provided | literature only |