Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255675 | SCV000322657 | pathogenic | not provided | 2016-08-19 | criteria provided, single submitter | clinical testing | The c.1649delA pathogenic variant in the SCN2A gene causes a frameshift starting with codon Lysine 550, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.K550RfsX11. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. |