ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.624del (p.Met208fs)

dbSNP: rs886039485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256075 SCV000322125 pathogenic not provided 2015-06-16 criteria provided, single submitter clinical testing The c.624delG variant in the KCNQ2 gene causes a frameshift starting with codon Methionine 208, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 65 of the new reading frame, denoted p.Met208IlefsX65. This variant is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, other truncating mutations in the KCNQ2 gene have been reported in association with KCNQ2-related disorders (Stenson et al., 2014).

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