ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) (rs72551315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000056136 SCV000949333 pathogenic Cholestanol storage disease 2019-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg231*) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with cerebrotendinous xanthomatosis (PMID: 9392430). It is also known as R198X in the literature. ClinVar contains an entry for this variant (Variation ID: 65891). 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.
GeneReviews RCV000056136 SCV000087216 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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