ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1661G>A (p.Gly554Glu) (rs1588359968)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000990 SCV001158095 likely pathogenic not specified 2019-01-04 criteria provided, single submitter clinical testing This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 554 is highly conserved and computational analyses (PolyPhen-2: possibly damaging, SIFT: damaging) predict an effect of this variant on protein structure/function. Missense variants in KCNT1 resulting in a gain-of-function have been proposed to be the mechanism of disease (McTague 2018). Based on the available information, the p.Gly554Glu variant is considered to be likely pathogenic.

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