Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728299 | SCV000855852 | uncertain significance | not provided | 2017-07-27 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV000728299 | SCV002099068 | uncertain significance | not provided | 2021-04-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386291 | SCV002671308 | uncertain significance | Cardiovascular phenotype | 2019-06-27 | criteria provided, single submitter | clinical testing | The p.R24762C variant (also known as c.74284C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 74284. The arginine at codon 24762 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is 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. |