Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487214 | SCV000572568 | likely pathogenic | not provided | 2017-08-18 | criteria provided, single submitter | clinical testing | The c.1364_1365delAGinsT variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1364_1365delAGinsT variant causes a frameshift starting with codon Lysine 455, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Lys455IlefsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The p.Lys455IlefsX26 variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret p.Lys455IlefsX26 as a likely pathogenic variant. |