ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270822 SCV001451586 uncertain significance Autism spectrum disorder 2019-04-26 criteria provided, single submitter clinical testing The CHD8 c.3454G>A (p.Val1152Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. The Val1152Ile residue is predicted to be highly evolutionarily conserved based on several in silico tools. Based on the limited evidence, the p.Val1152Ile variant is classified as a variant of uncertain significance for autism spectrum disorder.

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