ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)

dbSNP: rs1057518128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413171 SCV000491543 pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing The R114X variant in the CHD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The R114X variant has been observed as a de novo variant with confirmed parentage in multiple patients with neurodevelopmental disorders previously tested at GeneDx This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R114X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R114X as a pathogenic variant.
Fulgent Genetics, Fulgent Genetics RCV000762955 SCV000893392 pathogenic Developmental and epileptic encephalopathy 94 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000762955 SCV002216572 pathogenic Developmental and epileptic encephalopathy 94 2022-12-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 372997). This variant has not been reported in the literature in individuals affected with CHD2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg114*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121).

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