ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) (rs587778796)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000056114 SCV000267283 likely pathogenic Cholestanol storage disease 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000056114 SCV000800527 uncertain significance Cholestanol storage disease 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000056114 SCV000939588 pathogenic Cholestanol storage disease 2019-03-01 criteria provided, single submitter clinical testing This sequence change affects codon 145 of the CYP27A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CYP27A1 protein. This variant is present in population databases (rs587778796, ExAC 0.07%). This variant has been observed in several individuals affected with cerebrotendinous xanthomatosis and has been shown to segregate with disease in a family (PMID: 9521761, 29321515). This variant is also known as Gly112Gly in the literature. ClinVar contains an entry for this variant (Variation ID: 65869). Experimental studies have shown that this variant causes abnormal splicing of CYP27A1 mRNA (PMID: 9521761). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000056114 SCV001162937 pathogenic Cholestanol storage disease criteria provided, single submitter clinical testing
GeneReviews RCV000056114 SCV000087192 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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