ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp)

gnomAD frequency: 0.00011  dbSNP: rs369294392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517548 SCV000613050 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV001276432 SCV002185882 uncertain significance Cholestanol storage disease 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 119 of the CYP27A1 protein (p.Arg119Trp). This variant is present in population databases (rs369294392, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 447230). 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.
Natera, Inc. RCV001276432 SCV001462712 uncertain significance Cholestanol storage disease 2019-11-11 no assertion criteria provided clinical testing

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