Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620311 | SCV000736071 | uncertain significance | Cardiovascular phenotype | 2017-10-19 | criteria provided, single submitter | clinical testing | The p.G8591R variant (also known as c.25771G>A), located in coding exon 103 of the TTN gene, results from a G to A substitution at nucleotide position 25771. The glycine at codon 8591 is replaced by arginine, 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724095 | SCV001951149 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724095 | SCV001975464 | uncertain significance | not provided | no assertion criteria provided | clinical testing |