ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)

dbSNP: rs72551318
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000056148 SCV000746388 pathogenic Cholestanol storage disease 2017-12-03 criteria provided, single submitter clinical testing
Counsyl RCV000056148 SCV000794326 pathogenic Cholestanol storage disease 2017-09-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732382 SCV000860335 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000056148 SCV001397069 pathogenic Cholestanol storage disease 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg270*) 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 (rs72551318, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 9008528, 10741487, 22878431, 28590052). It has also been observed to segregate with disease in related individuals. This variant is also known as R237X. ClinVar contains an entry for this variant (Variation ID: 65902). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000732382 SCV001446961 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000732382 SCV001793333 pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 10741487, 25525159, 21764626, 16816916, 9008528, 28590052, 32531740, 31589614, 22878431, 31345219, 33891937, 33704661)
Revvity Omics, Revvity RCV000056148 SCV002018126 pathogenic Cholestanol storage disease 2021-04-21 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000056148 SCV002581477 pathogenic Cholestanol storage disease 2022-05-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000056148 SCV002806884 pathogenic Cholestanol storage disease 2022-05-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000056148 SCV004192647 pathogenic Cholestanol storage disease 2024-01-06 criteria provided, single submitter clinical testing
GeneReviews RCV000056148 SCV000087229 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Natera, Inc. RCV000056148 SCV002078783 pathogenic Cholestanol storage disease 2020-01-12 no assertion criteria provided clinical testing

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