ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.464G>A (p.Arg155His)

dbSNP: rs779076192
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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 RCV001239919 SCV001412822 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-11-04 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces arginine with histidine at codon 155 of the KCNQ2 protein (p.Arg155His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs779076192, ExAC 0.01%). This variant has not been reported in the literature in individuals with KCNQ2-related conditions.
GeneDx RCV004783934 SCV005396162 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the intracellular loop between the S2 and S3 transmembrane segments

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