Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001707815 | SCV000726283 | likely benign | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331069 | SCV002633635 | uncertain significance | Cardiovascular phenotype | 2020-01-28 | criteria provided, single submitter | clinical testing | The p.R15857S variant (also known as c.47571G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 47571. The arginine at codon 15857 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is poorly 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. |
Ce |
RCV001707815 | SCV004150283 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |