Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529932 | SCV000654684 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 5 | 2016-10-16 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GDF2-related disease. This sequence change replaces tryptophan with cysteine at codon 341 of the GDF2 protein (p.Trp341Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. |