ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)

dbSNP: rs1943770060
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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 RCV001202900 SCV001374035 likely pathogenic Cholestanol storage disease 2021-11-27 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change creates a premature translational stop signal (p.Gln487*) in the CYP27A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the CYP27A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 934497). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts the C-terminus of the CYP27A1 protein. Other variant(s) that disrupt this region (p.Arg513His, p.Gln525*, p.Arg513Cys) have been observed in individuals with CYP27A1-related conditions (PMID: 21404287, 22878431, 28623566). This suggests that this may be a clinically significant region of the protein.

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