ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2570C>T (p.Thr857Ile)

gnomAD frequency: 0.00002  dbSNP: rs753368036
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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 RCV003115124 SCV003785992 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-06-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 857 of the KCNQ2 protein (p.Thr857Ile). This variant is present in population databases (rs753368036, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. 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: 2417655).
Channelopathy-Associated Epilepsy Research Center RCV003315376 SCV004015048 not provided Complex neurodevelopmental disorder no assertion provided literature only

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