ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1720-155_1727delinsT (rs1596406306)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795595 SCV000935063 likely pathogenic Epileptic encephalopathy, childhood-onset 2018-08-22 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of intron 14 and part of exon 15 (c.1720-155_1727delinsT) of the CHD2 gene. As it spans the acceptor splice site for exon 15, it is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CHD2-related disease. Donor and acceptor splice site variants 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.

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