Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993502 | SCV001146521 | uncertain significance | not provided | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445147 | SCV002682497 | uncertain significance | Cardiovascular phenotype | 2020-03-19 | criteria provided, single submitter | clinical testing | The p.I2883R variant (also known as c.8648T>G), located in coding exon 35 of the TTN gene, results from a T to G substitution at nucleotide position 8648. The isoleucine at codon 2883 is replaced by arginine, an amino acid with similar 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. |