ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)

gnomAD frequency: 0.00001  dbSNP: rs12481082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209553 SCV001380993 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 855 of the KCNQ2 protein (p.Ser855Leu). This variant is present in population databases (rs12481082, gnomAD 0.0009%). 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: 21780). 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. 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.
GeneDx RCV001582491 SCV001820579 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Predicted to be within the C-terminal cytoplasmic domain; Has not been previously published as pathogenic or benign to our knowledge
GeneReviews RCV000678071 SCV000041632 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only

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