Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000222169 | SCV000272705 | uncertain significance | not specified | 2015-03-21 | criteria provided, single submitter | clinical testing | The p.Leu17289Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/186 of Chinese Dai chromosome s by the 1000 Genomes Project. Computational prediction tools and conservation a nalysis suggest this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Leu17289Ser variant is uncertain. |
| Ambry Genetics | RCV002444865 | SCV002611337 | uncertain significance | Cardiovascular phenotype | 2019-01-17 | criteria provided, single submitter | clinical testing | The p.L10792S variant (also known as c.32375T>C), located in coding exon 128 of the TTN gene, results from a T to C substitution at nucleotide position 32375. The leucine at codon 10792 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly 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 alteration remains unclear. |
| Fulgent Genetics, |
RCV002478777 | SCV002784759 | 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 | 2021-10-18 | criteria provided, single submitter | clinical testing |