Total submissions: 1
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. |