Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233839 | SCV000932091 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2021-02-03 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 639856). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 1203 of the COL5A2 protein (p.Gly1203Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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. |