ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.69_82del (p.His23fs)

dbSNP: rs1943398587
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243335 SCV001416486 pathogenic Cholestanol storage disease 2019-10-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). This variant has not been reported in the literature in individuals with CYP27A1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.His23Glnfs*153) in the CYP27A1 gene. It is expected to result in an absent or disrupted protein product.

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