Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041021 | SCV000064712 | likely benign | not specified | 2015-06-12 | criteria provided, single submitter | clinical testing | p.Ile4449Met in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (69/9888) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs144539321). |
Eurofins Ntd Llc |
RCV000041021 | SCV000705082 | likely benign | not specified | 2016-12-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490575 | SCV002801949 | likely benign | 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 | 2021-08-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000185253 | SCV000238115 | not provided | not provided | 2014-02-14 | 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). |
Prevention |
RCV004541198 | SCV004784083 | benign | TTN-related disorder | 2019-08-21 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |