Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435705 | SCV000525201 | likely pathogenic | not provided | 2016-03-31 | criteria provided, single submitter | clinical testing | A likely pathogenic variant has been identified in the TTN gene. The c.59065+1 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is located in the A-band of the titin protein, where the majority of truncating variants associated with disease are located. The c.59065+1 G>A splice site variant gene destroys the canonical splice donor site in intron 265; however the adjacent exon 265 remains in-frame. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |