ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) (rs786205231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000170512 SCV001221059 likely pathogenic Epileptic encephalopathy, early infantile, 32 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 263 of the KCNA2 protein (p.Ile263Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with epileptic encephalopathy (PMID:25751627). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 190326). This variant has been reported to affect KCNA2 protein function (PMID: 25751627). 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.
OMIM RCV000170512 SCV000222944 pathogenic Epileptic encephalopathy, early infantile, 32 2015-04-01 no assertion criteria provided literature only

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