ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.6103C>T (p.Arg2035Ter) (rs1131691627)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494457 SCV000582505 pathogenic not provided 2015-10-15 criteria provided, single submitter clinical testing The R2035X pathogenic variant in the CHD8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R2035X variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R2035X as a pathogenic variant.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000505184 SCV000599252 likely pathogenic Autism, susceptibility to, 18 2016-10-12 no assertion criteria provided clinical testing

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