ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) (rs146691368)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579050 SCV000681270 likely pathogenic not provided 2017-12-21 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the CHD2 gene. The R809X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R809X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R809X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000651631 SCV000773485 pathogenic Epileptic encephalopathy, childhood-onset 2018-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg809*) in the CHD2 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 CHD2-related disease. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as Pathogenic.

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