Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000620050 | SCV000736738 | uncertain significance | Cardiovascular phenotype | 2017-01-05 | criteria provided, single submitter | clinical testing | The p.S21540P variant (also known as c.64618T>C), located in coding exon 164 of the TTN gene, results from a T to C substitution at nucleotide position 64618. The serine at codon 21540 is replaced by proline, an amino acid with similar properties, and is located in the A-band region of the N2-B isoform of the titin protein. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |