Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608985 | SCV000732365 | likely benign | not specified | 2018-01-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002317375 | SCV000850684 | uncertain significance | Inborn genetic diseases | 2017-05-25 | criteria provided, single submitter | clinical testing | The p.R542Q variant (also known as c.1625G>A), located in coding exon 5 of the IQSEC2 gene, results from a G to A substitution at nucleotide position 1625. The arginine at codon 542 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine 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. |
Invitae | RCV001517213 | SCV001725664 | benign | Intellectual disability, X-linked 1 | 2023-12-13 | criteria provided, single submitter | clinical testing |