Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000211802 | SCV000059118 | pathogenic | Hypertrophic cardiomyopathy | 2012-01-24 | criteria provided, single submitter | clinical testing | The Glu722fs variant (MYBPC3) is predicted to cause a frameshift, which alters t he protein's amino acid sequence beginning at codon 722 and leads to a premature stop codon 32 amino acids downstream. This alteration is then predicted to lea d to a truncated or absent protein. Loss of function is an established mechanis m of disease for the MYBPC3 gene in HCM, which makes it highly likely that the G lu722fs variant is pathogenic. |