ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)

dbSNP: rs1555853970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000578391 SCV000680270 likely pathogenic Seizures, benign familial neonatal, 1 2017-12-09 criteria provided, single submitter clinical testing
Invitae RCV001322734 SCV001513621 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-05-18 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. 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. ClinVar contains an entry for this variant (Variation ID: 488537). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 541 of the KCNQ2 protein (p.Arg541Thr).

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