Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171556 | SCV000223640 | likely benign | not specified | 2015-12-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001852053 | SCV002242255 | uncertain significance | Long QT syndrome 10 | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the SCN4B gene. It does not directly change the encoded amino acid sequence of the SCN4B protein. This variant is present in population databases (rs758764353, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN4B-related conditions. ClinVar contains an entry for this variant (Variation ID: 190893). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |