Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598414 | SCV000706282 | pathogenic | not provided | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001067046 | SCV001232078 | pathogenic | Cholestanol storage disease | 2023-12-10 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 6 of the CYP27A1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 14741198, 25983621). ClinVar contains an entry for this variant (Variation ID: 500370). Studies have shown that disruption of this splice site results in skipping of exon 7 and introduces a premature termination codon (PMID: 25983621). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000598414 | SCV004036260 | pathogenic | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25983621) |
Baylor Genetics | RCV001067046 | SCV004190835 | pathogenic | Cholestanol storage disease | 2022-12-28 | criteria provided, single submitter | clinical testing |