ClinVar Miner

Submissions for variant NM_001194.4(HCN2):c.1657G>A (p.Val553Ile)

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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 RCV003448743 SCV004176416 uncertain significance Febrile seizures, familial, 2 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.1657G>A (p.Val553Ile) in the HCN2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Valine at position 553 is changed to an Isoleucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Val553Ile in HCN2 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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