ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys)

gnomAD frequency: 0.00001  dbSNP: rs760323157
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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 RCV002014569 SCV002230426 uncertain significance Cholestanol storage disease 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 223 of the CYP27A1 protein (p.Glu223Lys). This variant is present in population databases (rs760323157, gnomAD 0.003%). This missense change has been observed in individual(s) with CYP27A1-related conditions (PMID: 28337550). ClinVar contains an entry for this variant (Variation ID: 1449665). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.

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