Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000617729 | SCV000736831 | uncertain significance | Cardiovascular phenotype | 2017-04-25 | criteria provided, single submitter | clinical testing | The p.I7781V variant (also known as c.23341A>G), located in coding exon 95 of the TTN gene, results from an A to G substitution at nucleotide position 23341. The isoleucine at codon 7781 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine 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. |