Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040379 | SCV000064070 | uncertain significance | not specified | 2013-02-22 | criteria provided, single submitter | clinical testing | The Arg16090Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/8592 E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/;). This frequency is too low to ru le out a role in disease. Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, Polyphen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to f ully assess the clinical significance of the Arg16090Gln variant. |
Gene |
RCV000040379 | SCV000237323 | uncertain significance | not specified | 2014-10-27 | 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 CARDIOMYOPATHY panel(s). |
Eurofins Ntd Llc |
RCV000725280 | SCV000335645 | uncertain significance | not provided | 2015-10-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725280 | SCV001249872 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing |