Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000432223 | SCV000526440 | likely benign | not specified | 2016-07-14 | 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 | RCV002313085 | SCV000848446 | uncertain significance | Inborn genetic diseases | 2016-12-12 | criteria provided, single submitter | clinical testing | The p.Q1664E variant (also known as c.4990C>G), located in coding exon 37 of the CHD2 gene, results from a C to G substitution at nucleotide position 4990. The glutamine at codon 1664 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not 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. |