ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) (rs147306623)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715956 SCV000846788 likely benign Seizures 2016-12-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724878 SCV000226671 uncertain significance not provided 2017-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000724878 SCV000523050 uncertain significance not provided 2017-02-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNT1 gene. The E576K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E576K variant is observed in 11/10308 (0.11%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E576K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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