ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)

dbSNP: rs118192245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008092 SCV001167837 pathogenic not provided 2019-03-08 criteria provided, single submitter clinical testing The c.2597delG pathogenic variant in the KCNQ2 gene, reported as c.2513delG due to use of alternative nomenclature, has been identified in multiple individuals in a single family with benign familial neonatal seizures (Lerche et al., 1999). The deletion causes a frameshift starting with codon Glycine 866, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 64 of the new reading frame, denoted p.Gly866AlafsX64. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Functional studies suggest that c.2597delG has a damaging effect on the protein (Lerche et al., 1999; Su et al., 2011).
GeneReviews RCV000678072 SCV000041633 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)

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