Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002000759 | SCV002275342 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2021-05-25 | criteria provided, single submitter | clinical testing | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CHST14-related conditions. This variant is present in population databases (rs369563820, ExAC 0.001%). This sequence change replaces valine with methionine at codon 291 of the CHST14 protein (p.Val291Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. |