ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) (rs1596427937)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821263 SCV000962017 likely pathogenic Epileptic encephalopathy, childhood-onset 2018-12-04 criteria provided, single submitter clinical testing This variant, c.2652_2654delCTT, results in the deletion of 1 amino acid(s) of the CHD2 protein (p.Phe885del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with CHD2-related disorder (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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