ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1395G>A (p.Thr465=)

gnomAD frequency: 0.00003  dbSNP: rs777870376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703746 SCV000523016 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Invitae RCV000862968 SCV001003549 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270262 SCV002555337 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270263 SCV002555338 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912676 SCV004729084 likely benign KCNT1-related condition 2019-05-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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