ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)

dbSNP: rs1943733556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035420 SCV001198747 uncertain significance Cholestanol storage disease 2022-06-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 834683). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CYP27A1 protein function. 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 replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 234 of the CYP27A1 protein (p.Pro234Leu).
Mayo Clinic Laboratories, Mayo Clinic RCV003480908 SCV004225986 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001035420 SCV002078778 uncertain significance Cholestanol storage disease 2020-10-05 no assertion criteria provided clinical testing

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