ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.2345del (p.His782fs)

dbSNP: rs886039692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255911 SCV000322637 pathogenic not provided 2016-08-05 criteria provided, single submitter clinical testing The c.2345delA pathogenic variant in the CHD8 gene causes a frameshift starting with codon Histidine 782, changes this amino acid to a Proline residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.H782PfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
GenomeConnect - Simons Searchlight RCV001265459 SCV001443591 pathogenic Autism spectrum disorder 2018-06-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-06-22 and interpreted as Pathogenic. Variant was initially reported on 2016-08-22 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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