ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln)

dbSNP: rs2139467378
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001534619 SCV001751538 likely pathogenic Intellectual developmental disorder with autism and macrocephaly 2021-07-15 criteria provided, single submitter case-control The variant c.3725G>A (p.(Arg1242Gln)) in exon 19 of the CHD8-gene is not found in the gnomAD database and it affects a highly conserved nucleotide a highly conserved amino acid within a protein domain and there is a small physicochemical difference between Arg and Gln. This variant has a pathogenic computational verdict based on 12 pathogenic predictions from BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster, PolyPhen-2 and SIFT vs 1 benign prediction from PrimateAI. This variant was previously detected as a de novo variant in individuals with an autism / intellectual disability disorder (PMID: 27824329; 25363760; 28191890; 28714951; 31981491) and it was found in an affected individual in our clinic. Thus, we classify this variant as a likely pathogenic mutation. ACMG criteria used for classification: PS4, PM2, PP3, PP4, PP5.

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