Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241500 | SCV001409280 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2019-09-28 | 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 glycine with alanine at codon 689 of the COL5A2 protein (p.Gly689Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. |