Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002034381 | SCV002309866 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2022-09-27 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs752624508, gnomAD 0.01%). 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. 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1522347). This variant has not been reported in the literature in individuals affected with DSE-related conditions. This sequence change replaces arginine with cysteine at codon 776 of the DSE protein (p.Arg776Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. |