Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724199 | SCV000228283 | uncertain significance | not provided | 2014-12-10 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000213435 | SCV000272714 | uncertain significance | not specified | 2016-01-26 | criteria provided, single submitter | clinical testing | The p.Gly17888Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/64398 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Gly17888Ser variant is uncertain. |
Labcorp Genetics |
RCV000231416 | SCV000286763 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-03-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798630 | SCV002042579 | uncertain significance | Cardiomyopathy | 2020-05-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453628 | SCV002614442 | uncertain significance | Cardiovascular phenotype | 2020-07-29 | criteria provided, single submitter | clinical testing | The p.G11391S variant (also known as c.34171G>A), located in coding exon 131 of the TTN gene, results from a G to A substitution at nucleotide position 34171. The glycine at codon 11391 is replaced by serine, an amino acid with similar 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. |
Revvity Omics, |
RCV000724199 | SCV004237404 | uncertain significance | not provided | 2023-02-27 | criteria provided, single submitter | clinical testing |