ClinVar Miner

Submissions for variant NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg)

dbSNP: rs143577626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659081 SCV000780890 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001983 SCV001159791 uncertain significance Bone fragility with contractures, arterial rupture, and deafness 2018-07-05 criteria provided, single submitter clinical testing The PLOD3 c.887C>G; p.Pro296Arg variant (rs143577626), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.037% (101/276248 alleles) in the Genome Aggregation Database. The proline at codon 296 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Pro296Arg variant is uncertain at this time.
Invitae RCV000659081 SCV003282787 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 296 of the PLOD3 protein (p.Pro296Arg). This variant is present in population databases (rs143577626, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PLOD3-related conditions. ClinVar contains an entry for this variant (Variation ID: 547022). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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