Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241452 | SCV001403836 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2019-11-08 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals with COL5A2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 1111 of the COL5A2 protein (p.Pro1111Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. |
Gene |
RCV001760231 | SCV001999004 | uncertain significance | not provided | 2019-09-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |