Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184352 | SCV000236977 | likely pathogenic | not provided | 2012-12-21 | criteria provided, single submitter | clinical testing | c.82925delT variant in the TTN gene has not been reported previously as a pathogenic nor as a benign polymorphism, to our knowledge. c.82925delT causes a shift in reading frame starting at codon Leucine 27642, changing it to a Tyrosine, and creating a premature stop codon at position 118 of the new reading frame, denoted p.Leu27642TyrfsX118. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. c.82925delT is located in the A-band region of titin, where the majority of truncating mutations associated with DCM have been reported (Herman D et al., 2012). In summary, the c.82925delT variant in the TTN gene is considered a likely pathogenic variant. |