Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002259439 | SCV002538715 | uncertain significance | not provided | 2022-06-16 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation as the last 8 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene |
Labcorp Genetics |
RCV003101437 | SCV002940045 | uncertain significance | Brugada syndrome 5 | 2023-02-18 | criteria provided, single submitter | clinical testing | 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. This sequence change creates a premature translational stop signal (p.Arg261*) in the SCN1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the SCN1B protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1693012). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |