ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.447-1G>A

dbSNP: rs2105979879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998853 SCV002269707 likely pathogenic Cholestanol storage disease 2021-05-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CYP27A1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 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).
Baylor Genetics RCV001998853 SCV005059334 likely pathogenic Cholestanol storage disease 2024-01-04 criteria provided, single submitter clinical testing

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