ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.5047G>T (p.Glu1683Ter)

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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 RCV002510664 SCV002820167 uncertain significance Epilepsy, familial focal, with variable foci 4 criteria provided, single submitter clinical testing The stop gained p.E1683* in SCN3A (NM_006922.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.E1683* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The nucleotide change in SCN3A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Since this variant is present in the last exon therefore it is classified as Variant of Uncertain Significance (VUS). Functional studies will be required to prove protein truncation and loss of function. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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