ClinVar Miner

Submissions for variant NC_000015.10:g.51681311_51791472dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839108 SCV002099017 uncertain significance Developmental and epileptic encephalopathy, 13 2021-03-05 criteria provided, single submitter clinical testing This inherited 110.1kb duplication results in duplication of the exon 3 to exon 25 of the SCN8A gene. This duplication has not been reported in the literature in the patient with SCN8A-related disorders. The duplication is not present in gnomAD v2.1 or in DGV database, indicating it is a rare duplication. ClinGen Dosage Sensitivity curation indicates that the SCN8A gene has no evidence for dosage pathogenicity for haploinsufficiency (score is zero) or for triplosensitivity (score iszero). There are no additional protein coding genes located within this duplication. Based on the available evidence, the inherited 110.1kb duplication is classified as a Variant of Uncertain Significance.

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