ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) (rs200694691)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117366 SCV000151549 uncertain significance not provided 2013-10-09 criteria provided, single submitter clinical testing
Neurogenetics Laboratory - MEYER,AOU Meyer RCV000416953 SCV000494566 uncertain significance Focal epilepsy 2016-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000117366 SCV000582127 likely pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing The R961H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R961H variant is not observed in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In addition, R961H has been observed as an apparently de novo variant in a patient with seizures previously tested at GeneDx.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117366 SCV000702631 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000117366 SCV000842548 uncertain significance not provided 2017-11-24 criteria provided, single submitter clinical testing

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