Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522094 | SCV000618765 | uncertain significance | not provided | 2017-07-05 | criteria provided, single submitter | clinical testing | The c.615dupT variant in the SCN1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.615dupT variant changes codon Glutamic Acid 206 to a premature Stop codon, denoted p.Glu206Ter. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 13 amino acids are replaced by a premature Stop codon. The c.615dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.615dupT as a variant of uncertain significance. |
Invitae | RCV003509559 | SCV004253436 | uncertain significance | Brugada syndrome 5 | 2023-11-18 | criteria provided, single submitter | clinical testing | The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.5:c.*5561dup in the primary transcript. This sequence change creates a premature translational stop signal (p.Glu206*) in the SCN1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the SCN1B protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |