ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.879_883del (p.Ser293fs)

dbSNP: rs1060503517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465957 SCV000553243 pathogenic Developmental and epileptic encephalopathy 94 2016-09-26 criteria provided, single submitter clinical testing This sequence change deletes 5 nucleotides from exon 9 of the CHD2 mRNA (c.879_883delTGGTG), causing a frameshift at codon 293. This creates a premature translational stop signal (p.Ser293Argfs*3) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in CHD2are known to be pathogenic (PMID: 24207121).

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