Total submissions: 1
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. |