ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2326_2327delinsA (p.Pro776fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798112 SCV000937711 pathogenic Early infantile epileptic encephalopathy 2018-08-10 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the KCNQ2 gene (p.Pro776Thrfs*154). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 97 amino acids of the KCNQ2 protein and extend the protein by an additional 57 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNQ2-related disease. A different frameshift variant (p.Gly866Alafs*64) that lies downstream of this variant has been determined to be pathogenic (PMID: 10482260). This suggests that deletion of this region of the KCNQ2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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