ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1651T>C (p.Ser551Pro)

dbSNP: rs2080190604
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337329 SCV001530926 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-06-25 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"). This variant has not been reported in the literature in individuals with KCNQ2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 551 of the KCNQ2 protein (p.Ser551Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline.

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