Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breda Genetics srl | RCV001728126 | SCV001976557 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 9 | 2021-06-23 | criteria provided, single submitter | clinical testing | The variant c.669G>A (p.Val223Val) in the CACNB4 gene has not been reported in the dbSNP, gnomAD, or ClinVar databases, and causes a synonymous variant, that does not introduce changes in the amino acid sequence. In silico analysis indicates a possible alteration of the splicing process due to the activation of a cryptic donor site (HSF Pro). The NM_000726 transcript represents the transcript that codes for the longest isoform and, in accordance with the data of the GTEx v.7 project, is the most expressed transcript in 53 different human tissue samples. However, in countless other isoforms this nucleotide change causes a missense variant that introduces an isoleucine residue in place of a valine with variable in silico predictions depending on the transcript considered. |