ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu)

dbSNP: rs1553614310
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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 RCV002013410 SCV002292671 uncertain significance Cholestanol storage disease 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 65 of the CYP27A1 protein (p.Gln65Glu). 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 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.
Ambry Genetics RCV002407287 SCV002720829 uncertain significance Cardiovascular phenotype 2022-04-21 criteria provided, single submitter clinical testing The p.Q65E variant (also known as c.193C>G), located in coding exon 1 of the CYP27A1 gene, results from a C to G substitution at nucleotide position 193. The glutamine at codon 65 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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