Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471813 | SCV000553218 | uncertain significance | Supravalvar aortic stenosis | 2016-05-07 | 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ELN-related disease. This sequence change replaces alanine with threonine at codon 305 of the ELN protein (p.Ala305Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. |