Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219113 | SCV000272621 | uncertain significance | not specified | 2015-04-29 | criteria provided, single submitter | clinical testing | The p.Val926Ile variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analyses are conflicting. On the one hand, the variant amino acid (isoleucine, Ile) is present in 3 mammals (Tibetan antelope, sheep, and dom estic goat), suggesting that this change may be tolerated. However, this variant is located in the first base of the exon, which is part of the 3? splice region . Computational tools suggest an impact to splicing, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Val926Ile variant is uncertain. |