ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1104G>A (p.Ala368=)

gnomAD frequency: 0.00027  dbSNP: rs146032445
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174395 SCV000225687 likely benign not specified 2014-07-21 criteria provided, single submitter clinical testing
GeneDx RCV001704251 SCV000527369 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464114 SCV000563627 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2025-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269933 SCV002555303 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269934 SCV002555304 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426830 SCV002740342 likely benign Inborn genetic diseases 2017-07-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001704251 SCV005879425 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907558 SCV004723977 likely benign KCNT1-related disorder 2019-12-16 no assertion criteria provided 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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