ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys)

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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 RCV001270821 SCV001451585 uncertain significance Autism spectrum disorder 2020-06-19 criteria provided, single submitter clinical testing The CHD8 c.7258C>T (p.Arg2420Cys) 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 found at a frequency of 0.000086 in the East Asian population of the Genome Aggregation Database in a region of good sequence coverage, but is based on one allele only, so the variant is presumed to be rare. Based on the limited evidence, the p.Arg2420Cys variant is classified as a variant of uncertain significance for autism spectrum disorder.

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