ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.58del (p.Leu20fs)

dbSNP: rs2106479076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222882 SCV002500138 likely pathogenic Cholestanol storage disease 2022-03-06 criteria provided, single submitter clinical testing Variant summary: CYP27A1 c.58delC (p.Leu20SerfsX38) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have not been observed or classified at our laboratory but are reported in association with Cerebrotendinous Xanthomatosis in the HGMD database. The variant was absent in 145444 control chromosomes. To our knowledge, no occurrence of c.58delC in individuals affected with Cerebrotendinous Xanthomatosis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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