ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1243C>T (p.Pro415Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785932 SCV005401073 uncertain significance Developmental and epileptic encephalopathy, 7 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.1243C>T (p.Pro415Ser) in the KCNQ2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Pro at position 415 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen, SIFT and MutationTaster) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Pro415Ser in KCNQ2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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