ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.390C>T (p.Ser130=)

dbSNP: rs1555437851
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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 RCV000534530 SCV000654338 likely pathogenic Developmental and epileptic encephalopathy 94 2019-03-28 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 130 of the CHD2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CHD2 protein. This variant has been reported to arise de novo in an individual affected with Lennox Gastaut Syndrome (LGS) (PMID: 25262651). 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies.

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