ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu)

dbSNP: rs776752717
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732161 SCV000860073 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Invitae RCV001855677 SCV002279227 uncertain significance Cholestanol storage disease 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 503 of the CYP27A1 protein (p.Pro503Leu). This variant is present in population databases (rs776752717, gnomAD 0.004%). 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: 596356). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002388368 SCV002702472 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.P503L variant (also known as c.1508C>T), located in coding exon 9 of the CYP27A1 gene, results from a C to T substitution at nucleotide position 1508. The proline at codon 503 is replaced by leucine, an amino acid with 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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