ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1017+1del

dbSNP: rs1559392904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001911906 SCV002135906 pathogenic Cholestanol storage disease 2023-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr340Hisfs*5) 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 (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. This variant is also known as c.1017+1del. ClinVar contains an entry for this variant (Variation ID: 1365358). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001911906 SCV004190841 likely pathogenic Cholestanol storage disease 2021-12-29 criteria provided, single submitter clinical testing

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