Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593898 | SCV000701061 | uncertain significance | not provided | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377224 | SCV002687485 | uncertain significance | Cardiovascular phenotype | 2019-10-23 | criteria provided, single submitter | clinical testing | The p.R3067C variant (also known as c.9199C>T), located in coding exon 38 of the TTN gene, results from a C to T substitution at nucleotide position 9199. The arginine at codon 3067 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |