ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)

dbSNP: rs1064795655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484621 SCV000571660 likely pathogenic not provided 2016-09-21 criteria provided, single submitter clinical testing The G1103V variant in the CHD8 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1103V variant was not observed in approximately 5900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The G1103V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G1103V as a variant of uncertain significance.
GenomeConnect, ClinGen RCV004551589 SCV000840314 not provided CHD8-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen RCV000709955 SCV000840315 not provided Intellectual developmental disorder with autism and macrocephaly no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect - Simons Searchlight RCV001265457 SCV001443589 likely pathogenic Autism spectrum disorder 2018-03-26 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-26 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-09-23 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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