Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665735 | SCV000789902 | uncertain significance | Cholestanol storage disease | 2017-03-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997668 | SCV001153310 | uncertain significance | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665735 | SCV002315621 | uncertain significance | Cholestanol storage disease | 2022-10-13 | criteria provided, single submitter | clinical testing | This variant, c.207_209del, results in the deletion of 1 amino acid(s) of the CYP27A1 protein (p.Phe70del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774193477, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 550863). 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. |