Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002577820 | SCV002941787 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2023-08-17 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 892 of the DSE protein (p.Arg892Thr). This variant is present in population databases (rs371032206, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1904708). 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. |