ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu)

gnomAD frequency: 0.00001  dbSNP: rs967570036
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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 RCV002318729 SCV000850061 uncertain significance Inborn genetic diseases 2016-06-28 criteria provided, single submitter clinical testing The p.D2487E variant (also known as c.7461C>G), located in coding exon 37 of the CHD8 gene, results from a C to G substitution at nucleotide position 7461. The aspartic acid at codon 2487 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6193 samples (12386 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Baylor Genetics RCV001335740 SCV001528969 uncertain significance Intellectual developmental disorder with autism and macrocephaly 2018-12-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001766580 SCV001991906 uncertain significance not provided 2019-04-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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