ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.877C>T (p.Leu293Phe)

dbSNP: rs2081099943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001219622 SCV001391570 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-06-07 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in cis with a second adjacent missense variant in an individual with epilepsy and/or neurodevelopmental disease (PMID: 29655203). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 293 of the KCNQ2 protein (p.Leu293Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.
Channelopathy-Associated Epilepsy Research Center RCV003315364 SCV004015098 not provided Complex neurodevelopmental disorder no assertion provided literature only

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