ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His)

gnomAD frequency: 0.00001  dbSNP: rs758530960
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199840 SCV000255218 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 760 of the KCNQ2 protein (p.Arg760His). This variant is present in population databases (rs758530960, gnomAD 0.01%). 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: 216827). 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.
Revvity Omics, Revvity RCV003129805 SCV003811976 uncertain significance not provided 2022-01-02 criteria provided, single submitter clinical testing
Channelopathy-Associated Epilepsy Research Center RCV003315330 SCV004015042 not provided Complex neurodevelopmental disorder no assertion provided literature only

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