Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001876992 | SCV002129179 | uncertain significance | Cohen syndrome | 2022-04-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with VPS13B-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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This variant, c.7222_7224del, results in the deletion of 1 amino acid(s) of the VPS13B protein (p.Leu2408del), but otherwise preserves the integrity of the reading frame. |