Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318182 | SCV000851418 | uncertain significance | Inborn genetic diseases | 2016-12-20 | criteria provided, single submitter | clinical testing | The p.R761Q variant (also known as c.2282G>A), located in coding exon 16 of the SZT2 gene, results from a G to A substitution at nucleotide position 2282. The arginine at codon 761 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well 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 variant remains unclear. |