ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.46dup (p.Ala16fs)

dbSNP: rs1413976755
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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 RCV001390450 SCV001592190 pathogenic Cholestanol storage disease 2023-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala16Glyfs*165) 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 present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1076506). For these reasons, this variant has been classified as Pathogenic.

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