ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1080_1083del (p.Trp360fs)

dbSNP: rs1600732159
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009150 SCV001168965 pathogenic not provided 2018-12-17 criteria provided, single submitter clinical testing The c.1080_1083delGCAG pathogenic variant in the KCNQ2 gene causes a frameshift starting with codon Tryptophan 360, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Trp360CysfsX28. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1080_1083delGCAG variant is not observed in large population cohorts (Lek et al., 2016).

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