ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)

dbSNP: rs1943741125
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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. RCV001264213 SCV001442315 likely pathogenic Cholestanol storage disease 2019-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001264213 SCV002237099 pathogenic Cholestanol storage disease 2022-09-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 984204). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln319*) 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).

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