Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218955 | SCV000272710 | uncertain significance | not specified | 2015-04-04 | criteria provided, single submitter | clinical testing | The p.Pro17498Leu variant in TTN has not been reported in individuals with cardi omyopathy, but has been identified in 3/66678 European chromosomes and 2/11540 L atino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org). Computational prediction and conservation analyses suggest that th is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.P ro17498Leu variant is uncertain. |
Invitae | RCV000529341 | SCV000643457 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798651 | SCV002042569 | uncertain significance | Cardiomyopathy | 2021-05-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000184675 | SCV002770570 | uncertain significance | not provided | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000184675 | SCV000237365 | not provided | not provided | 2014-06-16 | no assertion provided | 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). |