Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726557 | SCV000345479 | uncertain significance | not provided | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000387917 | SCV000615989 | uncertain significance | not specified | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328792 | SCV002632020 | uncertain significance | Cardiovascular phenotype | 2018-11-20 | criteria provided, single submitter | clinical testing | The p.I3919L variant (also known as c.11755A>C), located in coding exon 44 of the TTN gene, results from an A to C substitution at nucleotide position 11755. The isoleucine at codon 3919 is replaced by leucine, an amino acid with highly 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 alteration remains unclear. |