Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478552 | SCV000573347 | pathogenic | not provided | 2017-10-13 | criteria provided, single submitter | clinical testing | The c.2823dupA variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2823dupA variant causes a frameshift starting with codon Glutamic Acid 942, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Glu942ArgfsX48. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2823dupA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2823dupA as a pathogenic variant. |