ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1614C>T (p.Arg538=)

gnomAD frequency: 0.00004  dbSNP: rs368876173
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703831 SCV000524631 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Invitae RCV000650670 SCV000772517 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 RCV002270286 SCV002555363 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270287 SCV002555365 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942376 SCV004758097 likely benign KCNT1-related disorder 2019-04-01 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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