ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)

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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 RCV003081227 SCV003457765 uncertain significance Cholestanol storage disease 2024-12-12 criteria provided, single submitter clinical testing This sequence change affects codon 85 of the CYP27A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CYP27A1 protein. This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon. This variant is present in population databases (rs374941032, gnomAD 0.008%). 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: 2148747). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV003081227 SCV005647729 likely pathogenic Cholestanol storage disease 2024-05-07 criteria provided, single submitter clinical testing

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