ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310058 SCV002604309 likely pathogenic Cholestanol storage disease 2022-02-27 criteria provided, single submitter clinical testing NM_000784.3(CYP27A1):c.1061delA(D354Afs*54) 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.

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