ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3045C>T (p.Gly1015=)

gnomAD frequency: 0.00003  dbSNP: rs576099213
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515104 SCV001723102 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2023-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001712922 SCV001942126 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271253 SCV002553620 likely benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271254 SCV002553621 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449345 SCV002752880 likely benign Inborn genetic diseases 2019-03-18 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.

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