ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092638 SCV001249244 likely pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV001215405 SCV001387150 uncertain significance Early infantile epileptic encephalopathy 2019-11-06 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 132 of the KCNQ2 protein (p.Val132Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNQ2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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