ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter)

dbSNP: rs1555314122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001249763 SCV001423796 pathogenic Intellectual developmental disorder with autism and macrocephaly 2019-10-16 criteria provided, single submitter clinical testing The CHD8 c.4871G>A (p.Trp1624Ter) variant is a stop-gained variant that is predicted to result in premature truncation of the protein. 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 sequencing coverage, so the variant is presumed to be rare. Based on the predicted truncating nature of the variant, its rarity, and identification in a de novo state, the p.Trp1624Ter variant is classified as pathogenic for autism spectrum disorder.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268252 SCV001447047 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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