Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001246808 | SCV001420193 | pathogenic | Cholestanol storage disease | 2023-07-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 971111). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Leu9Alafs*172) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). |
Revvity Omics, |
RCV001246808 | SCV002018120 | pathogenic | Cholestanol storage disease | 2020-03-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001246808 | SCV004192656 | pathogenic | Cholestanol storage disease | 2023-11-15 | criteria provided, single submitter | clinical testing |