Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668882 | SCV000793556 | likely pathogenic | Cholestanol storage disease | 2017-08-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000728856 | SCV000856474 | pathogenic | not provided | 2017-08-29 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Médica UC, |
RCV000668882 | SCV000897999 | pathogenic | Cholestanol storage disease | 2014-04-07 | criteria provided, single submitter | research | This patient is a compound heterozygote for the substitution c.256-1G>T that causes exon 2 skipping, leading to a premature stop codon in exon 3, and for the pathogenic mutation c.1183C>T(p.Arg395Cys). |
Invitae | RCV000668882 | SCV002240818 | pathogenic | Cholestanol storage disease | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 1 of the CYP27A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). 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: 25983621). ClinVar contains an entry for this variant (Variation ID: 553433). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000668882 | SCV004190834 | pathogenic | Cholestanol storage disease | 2023-01-28 | criteria provided, single submitter | clinical testing |