ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)

gnomAD frequency: 0.00002  dbSNP: rs533885672
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670341 SCV000795181 likely pathogenic Cholestanol storage disease 2017-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000670341 SCV000893578 likely pathogenic Cholestanol storage disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000670341 SCV000959073 pathogenic Cholestanol storage disease 2023-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln358*) 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 (rs533885672, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with clinical features of cerebrotendinous xanthomatosis (PMID: 29242796). ClinVar contains an entry for this variant (Variation ID: 554665). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000670341 SCV004190821 pathogenic Cholestanol storage disease 2023-05-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670341 SCV002078797 pathogenic Cholestanol storage disease 2021-03-31 no assertion criteria provided clinical testing

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