ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1894dup (p.Thr632fs)

dbSNP: rs2053619207
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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 RCV001054866 SCV001219224 pathogenic Developmental and epileptic encephalopathy 94 2019-03-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CHD2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr632Asnfs*4) 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). For these reasons, this variant has been classified as Pathogenic.

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