Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518220 | SCV000616194 | uncertain significance | not specified | 2017-04-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367722 | SCV002665757 | uncertain significance | Cardiovascular phenotype | 2019-01-14 | criteria provided, single submitter | clinical testing | The p.K23328E variant (also known as c.69982A>G), located in coding exon 175 of the TTN gene, results from an A to G substitution at nucleotide position 69982. The lysine at codon 23328 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is 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. |