ClinVar Miner

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

dbSNP: rs587778779
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile RCV000056075 SCV000897997 pathogenic Cholestanol storage disease 2014-04-07 criteria provided, single submitter research The homozygous c.1185-1G>T variant causes skippig of exon 7 and the generation of a premature stop codon in exon 8, leading to the loss of the crucial adrenoxin binding domain of CYP27A1.
Invitae RCV000056075 SCV003524919 pathogenic Cholestanol storage disease 2022-12-21 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 65835). This variant is also known as IVS6-1G>T. Disruption of this splice site has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 14741198, 25983621). This variant is not present in population databases (gnomAD no frequency).
GeneReviews RCV000056075 SCV000087140 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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