ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2023_2029dup (p.Gly677fs)

dbSNP: rs1565908565
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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 RCV002316731 SCV000850402 pathogenic Inborn genetic diseases 2017-01-27 criteria provided, single submitter clinical testing The c.2023_2029dupAAGAAAG pathogenic mutation, located in coding exon 12 of the SCN8A gene, results from a duplication of AAGAAAG at nucleotide positions 2023 to 2029, causing a translational frameshift with a predicted alternate stop codon (p.G677Efs*51). 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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