ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1799C>T (p.Thr600Met)

gnomAD frequency: 0.00001  dbSNP: rs1203090297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691137 SCV000818880 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-14 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: 570302). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0008%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 600 of the KCNQ2 protein (p.Thr600Met).

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