Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000211814 | SCV000198820 | pathogenic | Hypertrophic cardiomyopathy | 2013-04-20 | criteria provided, single submitter | clinical testing | The Leu1030fs variant in MYBPC3 has not been reported in individuals with cardio myopathy. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 1030 and lead to a premature termination codon 1 2 amino acids downstream. This alteration is then predicted to lead to a truncat ed or absent protein. Frameshift and other truncating variants in MYBPC3 are est ablished as pathogenic for HCM. In summary, this variant meets our criteria to b e classified as pathogenic (http://pcpgm.partners.org/LMM) based upon the predic ted impact of the variant. |