ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile)

dbSNP: rs796052655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187919 SCV000241521 pathogenic not provided 2020-07-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the C-terminal cytoplasmic domain; This variant is associated with the following publications: (PMID: 25880994, 24371303)
GeneReviews RCV000678194 SCV000484643 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)

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