Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000659081 | SCV000780890 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
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. |