ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.800T>C (p.Met267Thr)

dbSNP: rs1564354299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680018 SCV000807457 likely pathogenic Developmental and epileptic encephalopathy, 14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266677 SCV001444854 likely pathogenic Inborn genetic diseases 2018-09-18 criteria provided, single submitter clinical testing
GeneDx RCV002531409 SCV003195254 pathogenic not provided 2022-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28973083, 31618474)
PreventionGenetics, part of Exact Sciences RCV003420198 SCV004106226 likely pathogenic KCNT1-related condition 2023-09-06 criteria provided, single submitter clinical testing The KCNT1 c.800T>C variant is predicted to result in the amino acid substitution p.Met267Thr. This variant was reported in heterozygous state in several individuals with early infantile epileptic encephalopathy and occurred de novo in at least two individuals (Table e3; Meng et al. 2017. PubMed ID: 28973083; Table S1 and S2, Burgess et al. 2019. PubMed ID: 31618474; Table S4, Bonardi et al. 2021. PubMed ID: 34114611). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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