Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001910815 | SCV002164623 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2021-08-10 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant is present in population databases (rs778282572, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. 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 sequence change replaces valine with alanine at codon 822 of the DSE protein (p.Val822Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. |