ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys)

dbSNP: rs2053619460
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatrics, MediClubGeorgia RCV001265122 SCV001443152 likely pathogenic Developmental and epileptic encephalopathy 94 criteria provided, single submitter clinical testing This variant is absent in population databases and in clinvar. This variant has no existing interpretations. Parents were also tested and this variant was not detected. Algorithms developed to predict the effect of missense variants showed: Sift- Deleterious, PolyPhen2-HDIV- probably damaging, PolyPhen2-HVAR- probably damaging, MutationAssessor- High, MutationTaster- Disease causing, Provean - Damaging, Conservation - High.

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