Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579229 | SCV000680821 | uncertain significance | not provided | 2016-03-12 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the TTN gene. The K4244X 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 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K4244X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, this variant is not located in the A-band nor the M-line region of titin, where the majority of truncating variants associated with disease have been reported. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |