Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040424 | SCV000064115 | uncertain significance | not specified | 2017-01-27 | criteria provided, single submitter | clinical testing | The p.Asp17335Asn variant in TTN has been identified by our laboratory in one Ca ucasian individual with DCM. However, this individual also had an additional pat hogenic variant on the same copy of the TTN gene (in cis). This variant was abse nt from large population studies. Computational prediction tools and conservatio n analysis do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Asp17335Asn variant is uncertai n. |
Gene |
RCV000040424 | SCV000237356 | uncertain significance | not specified | 2015-06-12 | 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 panel(s). |
Fulgent Genetics, |
RCV002483015 | SCV002792666 | 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 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149650 | SCV003838648 | likely benign | Cardiomyopathy | 2022-12-07 | criteria provided, single submitter | clinical testing |