ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) (rs188850202)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987032 SCV001136214 pathogenic Cholestanol storage disease 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000987032 SCV001207851 pathogenic Cholestanol storage disease 2019-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg188*) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs188850202, ExAC 0.08%). This variant has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 28623566). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). For these reasons, this variant has been classified as Pathogenic.

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