Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987032 | SCV001136214 | pathogenic | Cholestanol storage disease | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000987032 | SCV001207851 | pathogenic | Cholestanol storage disease | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg188*) 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 (rs188850202, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 28623566). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 801897). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000987032 | SCV004192660 | pathogenic | Cholestanol storage disease | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928633 | SCV004742287 | pathogenic | CYP27A1-related disorder | 2023-10-24 | criteria provided, single submitter | clinical testing | The CYP27A1 c.562C>T variant is predicted to result in premature protein termination (p.Arg188*). This variant has been reported in the compound heterozygous state in an individual presenting with Cerebrotendinous xanthomatosis (CTX) (Family 4, Table 1, Chen et al. 2017. PubMed ID: 28623566). This variant is reported in 0.035% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-219677060-C-T). Nonsense variants in CYP27A1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Natera, |
RCV000987032 | SCV002078774 | pathogenic | Cholestanol storage disease | 2020-10-27 | no assertion criteria provided | clinical testing |