ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1264-1G>A

dbSNP: rs587778785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000056084 SCV002237264 pathogenic Cholestanol storage disease 2023-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with altered splicing, resulting in an in-frame deletion in exon 8 or inclusion of intron 7 (PMID: 9392430). ClinVar contains an entry for this variant (Variation ID: 65844). This variant is also known as In 7 G-1>A. Disruption of this splice site has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 9392430). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs587778785, gnomAD 0.003%). This sequence change affects an acceptor splice site in intron 7 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).
GeneReviews RCV000056084 SCV000087150 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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