ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.819del (p.Asp273fs)

dbSNP: rs587778812
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000056149 SCV000790445 pathogenic Cholestanol storage disease 2017-03-21 criteria provided, single submitter clinical testing
Invitae RCV000056149 SCV001579199 pathogenic Cholestanol storage disease 2023-01-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 65903). This premature translational stop signal has been observed in individuals with cerebrotendinous xanthomatosis (PMID: 8514861). This variant is present in population databases (rs587778812, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp273Glufs*13) 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).
Fulgent Genetics, Fulgent Genetics RCV000056149 SCV002809827 pathogenic Cholestanol storage disease 2021-10-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV000056149 SCV004192676 pathogenic Cholestanol storage disease 2023-08-24 criteria provided, single submitter clinical testing
GeneReviews RCV000056149 SCV000087230 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Natera, Inc. RCV000056149 SCV002078784 pathogenic Cholestanol storage disease 2021-06-18 no assertion criteria provided clinical testing

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