Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727851 | SCV000855314 | uncertain significance | not provided | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325443 | SCV002628996 | uncertain significance | Cardiovascular phenotype | 2020-03-09 | criteria provided, single submitter | clinical testing | The p.E13648K variant (also known as c.40942G>A), located in coding exon 147 of the TTN gene, results from a G to A substitution at nucleotide position 40942. The glutamic acid at codon 13648 is replaced by lysine, 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. |