ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) (rs886040985)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000258145 SCV000328329 pathogenic CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000258145 SCV000594104 pathogenic CHARGE association 2016-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000760387 SCV000890252 pathogenic not provided 2018-10-18 criteria provided, single submitter clinical testing The R1069X variant in the CHD7 gene has been reported previously as a recurrent de novo finding in individuals with CHARGE syndrome (Lalani et al., 2006; Moccia et al., 2018). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1069X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1069X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763599 SCV000894444 pathogenic CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000258145 SCV001585635 pathogenic CHARGE association 2020-07-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1069*) 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 individual(s) with CHARGE syndrome (PMID: 16400610, 29300383). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 267423). 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 RCV000258145 SCV000680054 pathogenic CHARGE association 2017-10-27 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000258145 SCV001197960 likely pathogenic CHARGE association no assertion criteria provided research

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