Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000631692 | SCV000752776 | uncertain significance | Long QT syndrome | 2022-01-06 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 28 of the CACNA1C gene. It does not directly change the encoded amino acid sequence of the CACNA1C protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 526999). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. |
| Ambry Genetics | RCV002343209 | SCV002619530 | uncertain significance | Cardiovascular phenotype | 2021-06-15 | criteria provided, single submitter | clinical testing | The c.3717+4A>G intronic alteration consists of a A to G substitution 4 nucleotides after exon 28 of the CACNA1C gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002492956 | SCV002790277 | uncertain significance | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-08-23 | criteria provided, single submitter | clinical testing |