Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001171780 | SCV001334634 | uncertain significance | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339424 | SCV002635310 | uncertain significance | Cardiovascular phenotype | 2021-11-09 | criteria provided, single submitter | clinical testing | The p.R1549S variant (also known as c.4647G>C), located in coding exon 2 of the ZNF469 gene, results from a G to C substitution at nucleotide position 4647. The arginine at codon 1549 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |