ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2876+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002865999 SCV003224557 likely pathogenic Developmental and epileptic encephalopathy 94 2022-07-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 22 of the CHD2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with clinical features of CHD2-related conditions (PMID: 31031587). This variant is not present in population databases (gnomAD no frequency).

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