ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)

gnomAD frequency: 0.00003  dbSNP: rs575064188
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597135 SCV000708939 pathogenic not provided 2018-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045736 SCV001209607 pathogenic Cholestanol storage disease 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln296*) 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 (rs575064188, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 28937538). ClinVar contains an entry for this variant (Variation ID: 502269). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000597135 SCV001773026 pathogenic not provided 2023-12-12 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: 28937538, 33414089)
Baylor Genetics RCV001045736 SCV004192646 pathogenic Cholestanol storage disease 2024-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001045736 SCV005647747 pathogenic Cholestanol storage disease 2024-06-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001045736 SCV002078788 pathogenic Cholestanol storage disease 2020-08-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004748850 SCV005357479 pathogenic CYP27A1-related disorder 2024-08-26 no assertion criteria provided clinical testing The CYP27A1 c.886C>T variant is predicted to result in premature protein termination (p.Gln296*). This variant was reported in trans with a second pathogenic CYP27A1 variant in an individual with cerebrotendinous xanthomatosis (Gong et al 2017. PubMed ID: 28937538). This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD. Nonsense variants in CYP27A1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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