ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1988A>G (p.Glu663Gly)

dbSNP: rs758747437
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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 RCV002958608 SCV003278789 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-09-17 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 663 of the KCNQ2 protein (p.Glu663Gly). This variant is present in population databases (rs758747437, gnomAD 0.06%). 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: 2065618). 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 disruptive. Experimental studies have shown that this missense change does not substantially affect 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.
Channelopathy-Associated Epilepsy Research Center RCV003315374 SCV004015035 not provided Complex neurodevelopmental disorder no assertion provided literature only

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