Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000247027 | SCV000318575 | uncertain significance | Cardiovascular phenotype | 2019-09-19 | criteria provided, single submitter | clinical testing | The p.T29890M variant (also known as c.89669C>T), located in coding exon 297 of the TTN gene, results from a C to T substitution at nucleotide position 89669. The threonine at codon 29890 is replaced by methionine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, methionine is the reference amino acid in other 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, |
RCV003137857 | SCV003825988 | uncertain significance | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing |