ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.4dup (p.Ala2fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005129442 SCV005758454 pathogenic Cholestanol storage disease 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2Glyfs*179) 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 variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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