ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) (rs267606724)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122607 SCV000329265 pathogenic not provided 2015-07-21 criteria provided, single submitter clinical testing The Q1599X nonsense variant in the CHD7 gene has been reported previously as de novo in association with congenital heart disease (Zaidi et al., 2013). The Q1599X pathogenic variant has also been reported in a parent diagnosed with CHARGE syndrome and both of his affected children (Vuorela et al. 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Q1599X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Approximately 45% of CHD7 pathogenic variants are nonsense changes predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay (Janssen et al., 2012; Zentner et al, 2010). Therefore, we interpret the Q1599X variant to be pathogenic.
OMIM RCV000002118 SCV000022276 pathogenic CHARGE association 2008-10-01 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000122607 SCV000155115 untested not provided no assertion provided not provided Converted during submission to not provided.

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