Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597135 | SCV000708939 | pathogenic | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001045736 | SCV001209607 | pathogenic | Cholestanol storage disease | 2023-09-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln296*) 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 (rs575064188, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 28937538). ClinVar contains an entry for this variant (Variation ID: 502269). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000597135 | SCV001773026 | pathogenic | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing | Reported in ClinVar as pathogenic (ClinVar Variant ID# 502269; Landrum et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28937538) |
Baylor Genetics | RCV001045736 | SCV004192646 | pathogenic | Cholestanol storage disease | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001045736 | SCV002078788 | pathogenic | Cholestanol storage disease | 2020-08-17 | no assertion criteria provided | clinical testing |