ClinVar Miner

Submissions for variant NM_001112741.1(KCNC1):c.691A>G (p.Thr231Ala) (rs1565162623)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688406 SCV000816016 likely pathogenic Epilepsy, progressive myoclonic 7 2018-03-29 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 231 of the KCNC1 protein (p.Thr231Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with seizure disorder, spasticity, hypertonia, global developmental delay, and abnormal neuronal migration, which is consistent with the phenotypic spectrum reported for a pathogenic variant in the KCNC1 gene (PMID: 25401298, 27629860, 28380698). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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