Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000621512 | SCV000736747 | uncertain significance | Cardiovascular phenotype | 2017-01-05 | criteria provided, single submitter | clinical testing | The p.G6457V variant (also known as c.19370G>T), located in coding exon 77 of the TTN gene, results from a G to T substitution at nucleotide position 19370. The glycine at codon 6457 is replaced by valine, an amino acid with dissimilar properties, and is located in the I-band region of the N2-B isoform of the titin protein.. 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. |