Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000198663 | SCV000250006 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | The P238S variant in the COL5A2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The P238S 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. The P238 residue is conserved in mammals. In silico analysis predicts P238S is probably damaging to the protein structure/function. Furthermore, the P238S 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. Nevertheless, no nearby missense mutations have been reported 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 P238S is a disease-causing mutation or a rare benign variant.. This variant was found in COL5A2, TAAD. |
| Invitae | RCV002229100 | SCV001559085 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-12-12 | criteria provided, single submitter | clinical testing |