Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000216687 | SCV000237634 | uncertain significance | not specified | 2014-09-04 | criteria provided, single submitter | clinical testing | Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s). |
Laboratory for Molecular Medicine, |
RCV000216687 | SCV000272775 | uncertain significance | not specified | 2015-01-16 | criteria provided, single submitter | clinical testing | The p.Cys25052Phe variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/67644 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Cys25052Phe variant is uncertain. |
Revvity Omics, |
RCV003137737 | SCV003824170 | uncertain significance | not provided | 2021-02-17 | criteria provided, single submitter | clinical testing |