ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)

gnomAD frequency: 0.00001  dbSNP: rs1319938730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997667 SCV001153309 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769365 SCV004679852 pathogenic Cholestanol storage disease 2024-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp11*) 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: 809159). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV003769365 SCV005647724 likely pathogenic Cholestanol storage disease 2024-06-22 criteria provided, single submitter clinical testing

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