ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1185-2A>T

dbSNP: rs1553616457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666864 SCV000791227 likely pathogenic Cholestanol storage disease 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV000666864 SCV004502558 pathogenic Cholestanol storage disease 2023-11-06 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with cerebrotendinous xanthomatosis (PMID: 14741198, 25983621). ClinVar contains an entry for this variant (Variation ID: 551730). 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.

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