Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008303 | SCV001168071 | pathogenic | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | The c.5345delG pathogenic variant in the CACNA1A gene causes a frameshift starting with codon Cysteine 1782, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Cys1782LeufsX20. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5345delG variant is not observed in large population cohorts (Lek et al., 2016). |