ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1754T>C (p.Leu585Pro)

dbSNP: rs2080185796
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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 RCV001046691 SCV001210605 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-04-18 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. This variant has been reported to affect KCNQ2 protein function (PMID: 16597729). 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 leucine with proline at codon 585 of the KCNQ2 protein (p.Leu585Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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