Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219525 | SCV000271485 | uncertain significance | not specified | 2015-07-08 | criteria provided, single submitter | clinical testing | The p.Gln362X variant in ACTC1 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This nonsense variant leads t o a premature termination codon at position 362. While most nonsense variants ar e predicted to lead to absent protein, this alteration occurs within a region wh ere it more likely results in a truncated protein. Although this variant is pred icted to be deleterious to the protein, the variant spectrum of this gene has no t been well characterized and it is unclear if these variant types play a role i n disease. In summary, the clinical significance of the p.Gln362X variant is unc ertain. |