Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000198510 | SCV000249840 | uncertain significance | not provided | 2014-01-12 | criteria provided, single submitter | clinical testing | p.Pro1526Leu (CCG>CTG): c.4577 C>T in exon 59 of the COL5A1 gene (NM_000093.3) The P1526L variant in the COL5A1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge.The P1526L variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In addition, the P1526 residue is well conserved across species. P1526L is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. However, mutations in nearby residues have not been reported in association with EDS or TAAD, indicating this region of the protein may tolerate change. In silico algorithms were not consistent in their predictions regarding the effect of P1526L on protein structure/function.With the clinical and molecular information available at this time, we cannot definitively determine if P1526L is a disease-causing mutation or a rare benign variant. The pathogenic role for this variant would be further supported if it occurred or if it co-segregates independently with a TAAD-related disorder. This variant was found in TAAD |
| Labcorp Genetics |
RCV002229057 | SCV001504946 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-03-31 | criteria provided, single submitter | clinical testing |