ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) (rs914428)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000117363 SCV000313665 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000117363 SCV000519457 benign not specified 2016-01-04 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.
Athena Diagnostics Inc RCV000712125 SCV000842546 benign not provided 2018-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715338 SCV000846167 benign Seizures 2015-12-31 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.
Invitae RCV001519880 SCV001728840 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117363 SCV000151546 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117363 SCV001741350 benign not specified no assertion criteria provided clinical testing

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