Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619066 | SCV000736846 | uncertain significance | Cardiovascular phenotype | 2017-06-01 | criteria provided, single submitter | clinical testing | The p.Q21868H variant (also known as c.65604G>C), located in coding exon 166 of the TTN gene, results from a G to C substitution at nucleotide position 65604. The glutamine at codon 21868 is replaced by histidine, an amino acid with highly similar 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. |