Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158399 | SCV000208334 | pathogenic | Cardiomyopathy | 2014-08-08 | criteria provided, single submitter | clinical testing | c.3316delG: p.Asp1106ThrfsX83 (D1106TfsX83) in exon 30 of the MYBPC3 gene (NM_000256.3) The normal sequence with the bases that are deleted in braces is: CCGA{G}ACAA.Although the c.3316delG mutation in the MYBPC3 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Aspartic acid 1106, changing it to a Threonine, and creating a premature stop codon at position 83 of the new reading frame, denoted p.Asp1106ThrfsX83. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the MYBPC3 gene have been reported in association with cardiomyopathy. In summary, c.3316delG in the MYBPC3 gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s). |