ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1185-1G>A

gnomAD frequency: 0.00001  dbSNP: rs587778779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.
GeneDx 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

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