ClinVar Miner

Submissions for variant NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) (rs1554991378)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000578307 SCV000680266 likely pathogenic Epilepsy, progressive myoclonic 7 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000578307 SCV000824388 pathogenic Epilepsy, progressive myoclonic 7 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 421 of the KCNC1 protein (p.Ala421Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of KCNC1-related disorder (PMID: 31353862, 31353855). This variant has been observed as a recurrent de novo variant. ClinVar contains an entry for this variant (Variation ID: 488536). This variant has been reported to affect KCNC1 protein function (PMID: 31353862, 31353855). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656267 SCV000778231 pathogenic not provided 2016-11-24 no assertion criteria provided clinical testing

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