ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu)

gnomAD frequency: 0.00399  dbSNP: rs201051863
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000175931 SCV000151539 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000175931 SCV000227505 benign not specified 2014-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000175931 SCV000523114 benign not specified 2016-02-11 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.
Invitae RCV000464310 SCV000563639 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312157 SCV000847009 benign Inborn genetic diseases 2016-07-05 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV002269824 SCV002554862 benign Developmental and epileptic encephalopathy, 14 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269825 SCV002554863 benign Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002274915 SCV002564084 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KCNT1: BS2

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