Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156710 | SCV000206431 | uncertain significance | not specified | 2014-08-13 | criteria provided, single submitter | clinical testing | The Gly24196Arg variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Gly24196Arg vari ant is uncertain. |
Ambry Genetics | RCV002345524 | SCV002644878 | uncertain significance | Cardiovascular phenotype | 2019-03-01 | criteria provided, single submitter | clinical testing | The p.G17699R variant (also known as c.53095G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 53095. The glycine at codon 17699 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002505179 | SCV002816239 | 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 | 2021-09-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137684 | SCV003825915 | uncertain significance | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003137684 | SCV003836840 | uncertain significance | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |