ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met)

dbSNP: rs756563523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054390 SCV001218702 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-01-13 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 850259). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 733 of the KCNQ2 protein (p.Val733Met).
CeGaT Center for Human Genetics Tuebingen RCV003438655 SCV004150909 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing KCNQ2: PP2

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