ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.274dup (p.Ala92fs)

dbSNP: rs886041890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000403302 SCV000330682 pathogenic not provided 2016-07-29 criteria provided, single submitter clinical testing The c.274dupG variant in the KCNQ2 gene has not been published as a pathogenic variant, nor has it been reportedas a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. The c.274dupG variant causes a frameshift starting with codon Alanine 92, changes this aminoacid to a Glycine residue and creates a premature Stop codon at position 28 of the new reading frame, denotedp.Ala92GlyfsX28. This variant is predicted to cause loss of normal protein function either through protein truncationor nonsense-mediated mRNA decay. Additionally, other frameshift variants upstream and downstream of this positionhave been reported in the Human Gene Mutation Database in association with KCNQ2-related disorders (Stenson etal., 2014).

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