Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229993 | SCV001402458 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2022-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CC2D2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1696_1698del, results in the deletion of 1 amino acid(s) of the CC2D2A protein (p.Glu566del), but otherwise preserves the integrity of the reading frame. ClinVar contains an entry for this variant (Variation ID: 957078). 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. |