Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001306972 | SCV001496363 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with serine at codon 377 of the PLOD1 protein (p.Tyr377Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is present in population databases (rs754748178, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. 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. |
| Ambry Genetics | RCV002322211 | SCV002610491 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-05-19 | criteria provided, single submitter | clinical testing | The p.Y377S variant (also known as c.1130A>C), located in coding exon 11 of the PLOD1 gene, results from an A to C substitution at nucleotide position 1130. The tyrosine at codon 377 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV001306972 | SCV002815087 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2022-04-27 | criteria provided, single submitter | clinical testing |