ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.303del (p.Pro102fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466088 SCV004192661 pathogenic Cholestanol storage disease 2023-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003466088 SCV004666152 pathogenic Cholestanol storage disease 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro102Leufs*5) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. 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). This premature translational stop signal has been observed in individual(s) with autosomal recessive cerebrotendinous xanthomatosis (PMID: 16372260). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects CYP27A1 function (PMID: 16372260). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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