ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1700T>A (p.Val567Asp)

dbSNP: rs1131691518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493703 SCV000582289 pathogenic not provided 2020-09-14 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: 28837158, 27888506, 29694806)
Channelopathy-Associated Epilepsy Research Center RCV003315348 SCV004015108 not provided Complex neurodevelopmental disorder no assertion provided literature only

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