ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) (rs1554625699)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765989 SCV000897421 uncertain significance Benign familial neonatal seizures 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000519627 SCV000619471 uncertain significance not specified 2017-07-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNQ3 gene. The c.1249_1250delGAinsAT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1249_1250delGAinsAT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1249_1250delGAinsAT variant results in an in-frame deletion of a single Glutamic acid residue and the insertion of a single Methionine residue, denoted p.E417M. This 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. This substitution alters residues that are conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. 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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