ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)

gnomAD frequency: 0.00018  dbSNP: rs143780942
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457699 SCV000563638 likely benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516376 SCV000613893 benign not specified 2016-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000516376 SCV000730969 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002313241 SCV000848420 likely benign Inborn genetic diseases 2018-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV001091225 SCV001247130 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing KCNT1: BS1
Genome-Nilou Lab RCV002270554 SCV002553602 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270555 SCV002553604 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing

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