Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000215019 | SCV000237067 | uncertain significance | not specified | 2014-05-06 | 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 DCM-CRDM panel(s). |
Laboratory for Molecular Medicine, |
RCV000215019 | SCV000272620 | uncertain significance | not specified | 2014-12-31 | criteria provided, single submitter | clinical testing | The p.Met9247Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/61848 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comp utational prediction tools and conservation analysis do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the p.Met9247Thr variant is uncertain. |
Invitae | RCV000457716 | SCV000543032 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-10-03 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852877 | SCV000995611 | likely benign | Primary dilated cardiomyopathy | 2017-08-21 | criteria provided, single submitter | clinical testing |