Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001065782 | SCV001230766 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2023-05-22 | criteria provided, single submitter | clinical testing | 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. 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 PLOD1 protein function. ClinVar contains an entry for this variant (Variation ID: 859624). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 137 of the PLOD1 protein (p.Arg137Thr). |
| Ambry Genetics | RCV003307909 | SCV003990516 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-01 | criteria provided, single submitter | clinical testing | The p.R137T variant (also known as c.410G>C), located in coding exon 4 of the PLOD1 gene, results from a G to C substitution at nucleotide position 410. The arginine at codon 137 is replaced by threonine, 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. |