Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184270 | SCV000236893 | pathogenic | not provided | 2014-07-16 | criteria provided, single submitter | clinical testing | p.Arg25681Stop (AGA>TGA): c.77041 A>T in exon 276 of the TTN gene (NM_001256850.1). The R25681X mutation in the TTN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. R25681X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other truncating TTN variants have been reported in approxipatemy 3% of control alleles (Herman et al., 2012). However, R25681X is located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman et al., 2012).In summary, R25681X in the TTN gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s). |