Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000152468 | SCV000201577 | uncertain significance | not specified | 2013-04-20 | criteria provided, single submitter | clinical testing | The Arg3549Cys variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses are limited or una vailable for this variant. Additional information is needed to fully assess the clinical significance of the Arg3549Cys variant. |
| Gene |
RCV000152468 | SCV000238088 | uncertain significance | not specified | 2015-03-31 | 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). |
| Eurofins Ntd Llc |
RCV000731155 | SCV000858933 | uncertain significance | not provided | 2017-12-29 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002478439 | SCV002785800 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-09-02 | criteria provided, single submitter | clinical testing |