ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)

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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 RCV003072898 SCV003473383 uncertain significance Cholestanol storage disease 2022-02-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 225 of the CYP27A1 protein (p.Arg225Leu). This variant is not present in population databases (gnomAD 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.
Ambry Genetics RCV004071900 SCV003562890 uncertain significance Cardiovascular phenotype 2021-09-22 criteria provided, single submitter clinical testing The c.674G>T (p.R225L) alteration is located in exon 4 (coding exon 4) of the CYP27A1 gene. This alteration results from a G to T substitution at nucleotide position 674, causing the arginine (R) at amino acid position 225 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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