Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196681 | SCV001367312 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2019-08-09 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. |
Invitae | RCV002240824 | SCV001559471 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2020-01-11 | 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 present in population databases (rs746155819, ExAC 0.002%). This sequence change replaces glutamic acid with aspartic acid at codon 865 of the COL5A2 protein (p.Glu865Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. |