Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670341 | SCV000795181 | likely pathogenic | Cholestanol storage disease | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000670341 | SCV000893578 | likely pathogenic | Cholestanol storage disease | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670341 | SCV000959073 | pathogenic | Cholestanol storage disease | 2023-09-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln358*) 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). This variant is present in population databases (rs533885672, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with clinical features of cerebrotendinous xanthomatosis (PMID: 29242796). ClinVar contains an entry for this variant (Variation ID: 554665). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000670341 | SCV004190821 | pathogenic | Cholestanol storage disease | 2023-05-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000670341 | SCV002078797 | pathogenic | Cholestanol storage disease | 2021-03-31 | no assertion criteria provided | clinical testing |