ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)

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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 RCV003340748 SCV004047440 uncertain significance Developmental and epileptic encephalopathy, 13 criteria provided, single submitter clinical testing The missense variant inc.3327C>G in SCN8A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn1109Lys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid change p.Asn1109Lys in SCN8A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Asn at position 1109 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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