ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004691 SCV001164151 likely pathogenic Developmental and epileptic encephalopathy, 14 2017-03-21 criteria provided, single submitter clinical testing
GeneDx RCV001585917 SCV001811230 pathogenic not provided 2021-03-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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: 26633542)
Institute of Human Genetics, University of Leipzig Medical Center RCV003128256 SCV003804660 likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-02-06 criteria provided, single submitter clinical testing This variant was identified together with the variants: _x000D_NM_013450.4:c.319_320del and NM_013450.4:c.5797-1G>C. Criteria applied: PM5_STR, PS4_MOD, PM2_SUP

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