ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) (rs748504264)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599064 SCV000710500 pathogenic not provided 2018-02-06 criteria provided, single submitter clinical testing The E2675X variant in the CHD7gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The E2675X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E2675X as a pathogenic variant
Mendelics RCV000988070 SCV001137638 pathogenic CHARGE association 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000988070 SCV001212339 pathogenic CHARGE association 2019-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2675*) 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 not been reported in the literature in individuals with CHD7-related conditions. ClinVar contains an entry for this variant (Variation ID: 504190). Loss-of-function variants in CHD7 are known to be pathogenic (PMID: 22461308, 25077900). For these reasons, this variant has been classified as Pathogenic.

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