ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2401del (p.Ser801fs)

dbSNP: rs1064793852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487374 SCV000567184 pathogenic not provided 2015-07-02 criteria provided, single submitter clinical testing The c.2401delT deletion in the KCNQ2 gene causes a frameshift starting with codon Serine 801, changesthis amino acid to a Proline residue and creates a premature Stop codon at position 129 of the new readingframe, denoted p.Ser801ProfsX129. This results in the replacement of the last 72 amino acids of the KCNQ2protein with 128 incorrect amino acids. Although this variant has not been previously reported to ourknowledge, we consider it to be pathogenic.

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