Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486718 | SCV000571323 | likely pathogenic | not provided | 2023-03-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28087566) |
Blueprint Genetics | RCV000486718 | SCV000927652 | uncertain significance | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002230946 | SCV001386720 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 702 of the COL5A2 protein (p.Gly702Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs772811492, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 421973). 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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). 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. |
Ai |
RCV000486718 | SCV002502421 | uncertain significance | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing |