Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172236 | SCV000051125 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ambry Genetics | RCV002345591 | SCV002648705 | uncertain significance | Cardiovascular phenotype | 2019-12-12 | criteria provided, single submitter | clinical testing | The p.P18404A variant (also known as c.55210C>G), located in coding exon 153 of the TTN gene, results from a C to G substitution at nucleotide position 55210. The proline at codon 18404 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is not well 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. |