ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.814C>A (p.Leu272Met)

dbSNP: rs2145735086
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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 RCV001936348 SCV002199758 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-04-29 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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 leucine with methionine at codon 272 of the KCNQ2 protein (p.Leu272Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine.

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