ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2951ACA[1] (p.Asn985del)

dbSNP: rs2487807866
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004590635 SCV005078159 likely pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing Reported in a patient with CHARGE syndrome in published literature (Michelucci et al., 2010); In-frame deletion of one amino acid in a non-repeat region predicted to critically alter the protein; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20943277)

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