ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)

dbSNP: rs886040978
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000258077 SCV000328315 pathogenic CHARGE syndrome 2016-09-05 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000258077 SCV000996082 pathogenic CHARGE syndrome 2017-11-16 criteria provided, single submitter clinical testing This stop-gain variant has not been previously reported in the literature to our knowledge, but stop-gain changes in the neighboring amino acids have been reported in the literature in association with CHARGE syndrome (PMID: 21158681, 24790386). This variant was recently classified as pathogenic in the ClinVar database by another clinical laboratory in one individual with a clinical diagnosis of CHARGE syndrome. In addition, this variant is not present in the public SNP databases. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the p.Gln166Ter variant is classified as pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV000258077 SCV003839080 pathogenic CHARGE syndrome 2023-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409390 SCV004114535 pathogenic CHD7-related disorder 2022-12-30 criteria provided, single submitter clinical testing The CHD7 c.496C>T variant is predicted to result in premature protein termination (p.Gln166*). This variant has been reported as de novo in an individual with CHARGE syndrome (Kingsmore et al. 2019. PubMed ID: 31564432; Table S15 - Clark et al. 2019. PubMed ID: 31019026). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CHD7 are expected to be pathogenic. This variant is interpreted as pathogenic.

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