Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619835 | SCV000736961 | uncertain significance | Cardiovascular phenotype | 2017-12-12 | criteria provided, single submitter | clinical testing | The p.L23712R variant (also known as c.71135T>G), located in coding exon 179 of the TTN gene, results from a T to G substitution at nucleotide position 71135. The leucine at codon 23712 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and damaging by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |