ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)

dbSNP: rs1943689766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264207 SCV001442309 likely pathogenic Cholestanol storage disease 2019-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001264207 SCV004261596 pathogenic Cholestanol storage disease 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp96*) 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. ClinVar contains an entry for this variant (Variation ID: 984198). For these reasons, this variant has been classified as Pathogenic.

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