ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg)

dbSNP: rs886043798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282062 SCV000342048 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV003105851 SCV003781797 uncertain significance Cholestanol storage disease 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 362 of the CYP27A1 protein (p.His362Arg). 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. ClinVar contains an entry for this variant (Variation ID: 288055). 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. 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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