Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172228 | SCV000051121 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ambry Genetics | RCV000618177 | SCV000735792 | uncertain significance | Cardiovascular phenotype | 2017-03-02 | criteria provided, single submitter | clinical testing | The p.G18864R variant (also known as c.56590G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 56590. The glycine at codon 18864 is replaced by arginine, an amino acid with dissimilar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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. |