Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000322216 | SCV000337135 | uncertain significance | not provided | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338839 | SCV002642976 | uncertain significance | Cardiovascular phenotype | 2019-12-12 | criteria provided, single submitter | clinical testing | The p.R16759C variant (also known as c.50275C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 50275. The arginine at codon 16759 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not 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. |