ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2519C>T (p.Thr840Ile)

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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 RCV004764328 SCV005373613 uncertain significance Seizures, benign familial neonatal, 2 2023-06-02 criteria provided, single submitter clinical testing The observed missense c.2519C>T(p.Thr840Ile) variant in KCNQ3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Thr at position 840 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Thr840Ile in KCNQ3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging, and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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