ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)

gnomAD frequency: 0.00002  dbSNP: rs1378044084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209045 SCV001380464 uncertain significance Cholestanol storage disease 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 173 of the CYP27A1 protein (p.Leu173Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV004609659 SCV005111344 uncertain significance Cardiovascular phenotype 2024-05-26 criteria provided, single submitter clinical testing The p.L173P variant (also known as c.518T>C), located in coding exon 3 of the CYP27A1 gene, results from a T to C substitution at nucleotide position 518. The leucine at codon 173 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001209045 SCV002078770 uncertain significance Cholestanol storage disease 2020-12-29 no assertion criteria provided clinical testing

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