ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2901+2T>C

dbSNP: rs2138863154
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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 RCV001839067 SCV002098961 pathogenic Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 2021-03-12 criteria provided, single submitter clinical testing The de novo heterozygous c.2901+2T>C variant identified in intron16 (of 26) of the SCN8A gene has not been reported in affected individuals in the literature. The variant affects the canonical splice site in intron 16 of the SCN8A gene. The c.2901+2T>C variant is expected to disrupt normal mRNA splicing and is predicted to result in an in-frame deletionof exon 16. The loss of exon 16 is expected to remove 119 amino acids (Leu849 to Val967) which are part of the functionally important domain II (DII). The variant is absent from the gnomAD(v3) database suggesting that it is not a common benign variant in the populations represented in that database. Based on the available evidence, the de novo heterozygous c.2901+2T>C splice-site variant identified in intron16 (of 26) of the SCN8A gene is reported as Pathogenic.

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