Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253366 | SCV001429043 | uncertain significance | EAST syndrome | 2018-11-19 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous |
Ambry Genetics | RCV002348850 | SCV002645942 | uncertain significance | Inborn genetic diseases | 2018-01-16 | criteria provided, single submitter | clinical testing | The p.I169T variant (also known as c.506T>C), located in coding exon 1 of the KCNJ10 gene, results from a T to C substitution at nucleotide position 506. The isoleucine at codon 169 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |