ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.142C>T (p.Gln48Ter)

dbSNP: rs1555318734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008005 SCV001167737 pathogenic not provided 2020-06-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001824911 SCV002074929 not provided CHD8-related disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 02-25-2019 by Lab or GTR ID 26957. 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.

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