ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2460dup (p.Asp821Ter)

dbSNP: rs1565915356
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318849 SCV000850287 pathogenic Inborn genetic diseases 2016-10-28 criteria provided, single submitter clinical testing The c.2460dupT pathogenic mutation, located in coding exon 14 of the SCN8A gene, results from a duplication of T at nucleotide position 2460, causing a translational frameshift with a predicted alternate stop codon. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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