ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu) (rs1553181301)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653131 SCV000775007 likely pathogenic Epileptic encephalopathy, early infantile, 32 2018-09-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 338 of the KCNA2 protein (p.Gly338Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo with confirmed paternity in an individual affected with epilepsy (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531007 SCV001745939 likely pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing

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