Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092233 | SCV001248643 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002307684 | SCV002600377 | uncertain significance | not specified | 2022-10-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348554 | SCV002643418 | uncertain significance | Cardiovascular phenotype | 2018-08-27 | criteria provided, single submitter | clinical testing | The p.V17945A variant (also known as c.53834T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 53834. The valine at codon 17945 is replaced by alanine, an amino acid with similar properties. 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. |