ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)

gnomAD frequency: 0.00011  dbSNP: rs774002673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535769 SCV000634063 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 751 of the KCNQ2 protein (p.Ser751Leu). This variant is present in population databases (rs774002673, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 339329). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects KCNQ2 function (PMID: 35104249). 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.
New York Genome Center RCV001542406 SCV001761105 uncertain significance Developmental and epileptic encephalopathy, 7 2020-07-03 criteria provided, single submitter clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315337 SCV004015039 not provided Complex neurodevelopmental disorder no assertion provided literature only

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