Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000040703 | SCV000064394 | uncertain significance | not specified | 2012-10-08 | criteria provided, single submitter | clinical testing | The Thr25553Lys variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stro ng support for or against an impact to the protein. Additional information is n eeded to fully assess the clinical significance of the Thr25553Lys variant. |
| Ambry Genetics | RCV000247682 | SCV000320570 | uncertain significance | Cardiovascular phenotype | 2018-08-17 | criteria provided, single submitter | clinical testing | The p.T19056K variant (also known as c.57167C>A), located in coding exon 153 of the TTN gene, results from a C to A substitution at nucleotide position 57167. The threonine at codon 19056 is replaced by lysine, an amino acid with some similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
| Fulgent Genetics, |
RCV002490566 | SCV002788344 | 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 | 2021-10-20 | criteria provided, single submitter | clinical testing |