ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) (rs1554593049)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000578196 SCV000827949 pathogenic CHARGE association 2018-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln814*) in the CHD7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with CHD7-related disease (PMID: 23885230, 29300383) and has been reported to be de novo in an individual referred for CHARGE syndrome genetic testing (PMID: 21158681). ClinVar contains an entry for this variant (Variation ID: 488369). Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). For these reasons, this variant has been classified as Pathogenic.
SBielas Lab, Department of Human Genetics,University of Michigan RCV000578196 SCV000680048 pathogenic CHARGE association 2017-10-27 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000578196 SCV001197954 likely pathogenic CHARGE association no assertion criteria provided research

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