Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000056149 | SCV000790445 | pathogenic | Cholestanol storage disease | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000056149 | SCV001579199 | pathogenic | Cholestanol storage disease | 2023-01-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 65903). This premature translational stop signal has been observed in individuals with cerebrotendinous xanthomatosis (PMID: 8514861). This variant is present in population databases (rs587778812, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp273Glufs*13) 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). |
Fulgent Genetics, |
RCV000056149 | SCV002809827 | pathogenic | Cholestanol storage disease | 2021-10-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000056149 | SCV004192676 | pathogenic | Cholestanol storage disease | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000056149 | SCV000087230 | pathologic | Cholestanol storage disease | 2013-08-01 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Natera, |
RCV000056149 | SCV002078784 | pathogenic | Cholestanol storage disease | 2021-06-18 | no assertion criteria provided | clinical testing |