ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) (rs397514740)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000054509 SCV000898594 likely pathogenic Epileptic encephalopathy, childhood-onset 2018-04-30 criteria provided, single submitter clinical testing CHD2 NM_001271.3 exon 4 p.Arg121* (c.361C>T): This variant has been reported in the literature as de novo in 1 individual with epileptic encephalopathy (Carvill 2013 PMID:23708187). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is predicted to cause a stopgain at this codon, resulting in protein truncation or loss of allelic expression through nonsense-mediated mRNA decay. Loss of function has been suggested as a mechanism of disease for this gene (Carvill 2013 PMID:23708187). In summary, this variant is classified as likely pathogenic based on the data above (predicted impact to protein etc., presence as a de novo in literature).
OMIM RCV000054509 SCV000082987 pathogenic Epileptic encephalopathy, childhood-onset 2013-07-01 no assertion criteria provided literature only
GeneReviews RCV000054509 SCV000257576 pathogenic Epileptic encephalopathy, childhood-onset 2015-09-10 no assertion criteria provided literature only

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