Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000199014 | SCV000249989 | uncertain significance | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | The Q1378R variant in the COL5A2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The Q1378R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q1378R variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. However, the Q1378 residue is not conserved across species and in silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. No mutations in nearby residues have have been reported in association with Ehlers-Danlos syndrome indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Q1378R is a disease-causing mutation or a rare benign variant. This variant was found in COL5A2,TAAD. |
| Mayo Clinic Laboratories, |
RCV000199014 | SCV001714073 | uncertain significance | not provided | 2021-06-08 | criteria provided, single submitter | clinical testing | BP4, PM2_supporting |