ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4990C>G (p.Gln1664Glu)

dbSNP: rs1057522158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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