Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182388 | SCV000234725 | pathogenic | not provided | 2014-03-13 | criteria provided, single submitter | clinical testing | c.586_596delAGGCTGCAGAC: p.Arg196HisfsX14 (R196HfsX14) in exon 3 of the LMNA gene (NM_170707.2). The normal sequence with the bases that are deleted in braces is: GAAC{AGGCTGCAGAC}CATG. Although the c.586_596delAGGCTGCAGAC mutation in the LMNA gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Arginine 196, changing it to a Histidine, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Arg196HisfsX14. 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 LMNA gene have been reported in association with cardiomyopathy. In summary, c.586_596delAGGCTGCAGAC in the LMNA gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s). |