Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002533638 | SCV000830746 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2018-05-30 | 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. This variant has not been reported in the literature in individuals with COL5A2-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.2210delinsGTCC, results in the deletion of 1 amino acid and insertion of 2 amino acids to the COL5A2 protein (p.His737delinsArgPro), but otherwise preserves the integrity of the reading frame. |