Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224373 | SCV001396563 | benign | Mowat-Wilson syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411829 | SCV002722388 | uncertain significance | Inborn genetic diseases | 2018-05-14 | criteria provided, single submitter | clinical testing | The p.V627I variant (also known as c.1879G>A), located in coding exon 7 of the ZEB2 gene, results from a G to A substitution at nucleotide position 1879. The valine at codon 627 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other 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. |