ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.395del (p.Leu132fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309688 SCV002603566 likely pathogenic Cholestanol storage disease 2022-02-14 criteria provided, single submitter clinical testing NM_000784.3(CYP27A1):c.395delT(L132Hfs*11) is expected to be pathogenic in the context of cerebrotendinous xanthomatosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CYP27A1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV002309688 SCV004190824 likely pathogenic Cholestanol storage disease 2023-04-04 criteria provided, single submitter clinical testing

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