Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002583702 | SCV002940272 | uncertain significance | Cohen syndrome | 2022-05-06 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the VPS13B gene (p.Ala4016Serfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the VPS13B protein and extend the protein by 4 additional amino acid residues. This variant is present in population databases (rs763368183, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |