ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)

gnomAD frequency: 0.00006  dbSNP: rs369363177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792745 SCV000932061 uncertain significance Cholestanol storage disease 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 142 of the CYP27A1 protein (p.Leu142Pro). This variant is present in population databases (rs369363177, gnomAD 0.02%). This missense change has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 21955034). ClinVar contains an entry for this variant (Variation ID: 639836). 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. 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.
Revvity Omics, Revvity Omics RCV000792745 SCV003830395 uncertain significance Cholestanol storage disease 2021-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000792745 SCV001462714 uncertain significance Cholestanol storage disease 2020-01-04 no assertion criteria provided clinical testing

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