ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys)

dbSNP: rs796052658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997801 SCV001153516 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197335 SCV001368022 uncertain significance Developmental and epileptic encephalopathy, 7 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.
Invitae RCV002549982 SCV002997361 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-09-01 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly 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. ClinVar contains an entry for this variant (Variation ID: 809267). 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 glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 749 of the KCNQ2 protein (p.Glu749Lys).

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