ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) (rs1563559596)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736079 SCV000864317 likely pathogenic CHARGE association 2017-12-22 criteria provided, single submitter clinical testing PVS1, PM2; This nonsense alteration within exon 2 of the CHD7 gene is absent from healthy populations [ACMG:PM2] and predicted to introduce a premature stop codon in a gene where loss of function is a known mechanism of disease (PMID: 20301296)[ACMG:PVS1]. This alteration meets ACMG guidelines for classification as a likely pathogenic variant.

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