ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln)

gnomAD frequency: 0.00001  dbSNP: rs573063062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719633 SCV000850503 uncertain significance History of neurodevelopmental disorder 2017-03-02 criteria provided, single submitter clinical testing The p.R2418Q variant (also known as c.7253G>A), located in coding exon 37 of the CHD8 gene, results from a G to A substitution at nucleotide position 7253. The arginine at codon 2418 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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 alteration remains unclear.
Invitae RCV000936546 SCV001082316 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000936546 SCV001914287 benign not provided 2021-03-08 criteria provided, single submitter clinical testing

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