Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801788 | SCV000941583 | likely benign | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360952 | SCV002662008 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-02 | criteria provided, single submitter | clinical testing | The p.D234E variant (also known as c.702C>G), located in coding exon 7 of the PLOD1 gene, results from a C to G substitution at nucleotide position 702. The aspartic acid at codon 234 is replaced by glutamic acid, an amino acid with highly 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. |
Genome |
RCV000801788 | SCV001749486 | not provided | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 08-03-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |