ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly) (rs1567140845)

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Total submissions: 1
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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 RCV000768177 SCV000898597 uncertain significance Epileptic encephalopathy, childhood-onset 2018-01-09 criteria provided, single submitter clinical testing CHD2 NM_001271.3 exon 15 p.Asp602Gly (c.1805A>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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