ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val)

gnomAD frequency: 0.00090  dbSNP: rs143355299
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117360 SCV000151543 uncertain significance not provided 2014-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080289 SCV000652918 benign Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000601184 SCV000714086 benign not specified 2017-10-16 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.
CeGaT Center for Human Genetics Tuebingen RCV000117360 SCV002546124 benign not provided 2024-01-01 criteria provided, single submitter clinical testing KCNT1: BS1, BS2
Ambry Genetics RCV002408619 SCV002721129 benign Inborn genetic diseases 2019-01-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003925142 SCV004739292 benign KCNT1-related disorder 2020-04-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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