Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184228 | SCV000236850 | pathogenic | not provided | 2014-06-25 | criteria provided, single submitter | clinical testing | p.Glu15300Stop (GAA>TAA): c.45898 G>T in exon 219 of the TTN gene (NM_001256850.1). The E15300X mutation in the TTN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. E15300X 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 approximately 3% of control alleles (Herman et al., 2012). However, E15300X 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, E15300X in the TTN gene is interpreted as a disease-causing mutation. The variant is found in CARDIOMYOPATHY panel(s). |