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: 5
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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
Invitae RCV001045736 SCV001209607 pathogenic Cholestanol storage disease 2023-09-12 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 2020-02-27 criteria provided, single submitter clinical testing Reported in ClinVar as pathogenic (ClinVar Variant ID# 502269; Landrum et al., 2016); 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)
Baylor Genetics RCV001045736 SCV004192646 pathogenic Cholestanol storage disease 2023-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001045736 SCV002078788 pathogenic Cholestanol storage disease 2020-08-17 no assertion criteria provided clinical testing

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