ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.518dup (p.Met174fs)

dbSNP: rs1555873813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599236 SCV000710183 pathogenic not provided 2017-12-04 criteria provided, single submitter clinical testing The c.518dupT pathogenic variant in the KCNQ2 gene causes a frameshift starting with codon Methionine 174, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 89 of the new reading frame, denoted p.Met174HisfsX89. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.518dupT variant is not observed in large population cohorts (Lek et al., 2016).

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