ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser)

dbSNP: rs2105980045
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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 RCV001925903 SCV002177737 uncertain significance Cholestanol storage disease 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 214 of the CYP27A1 protein (p.Leu214Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. 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 expected to disrupt CYP27A1 protein function. 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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