Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531370 | SCV000637275 | uncertain significance | Shprintzen-Goldberg syndrome | 2017-09-03 | criteria provided, single submitter | clinical testing | In summary, this variant has uncertain impact on SKI function. The available evidence is currently insufficient to determine its role 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 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 a SKI-related disease. This variant is present in population databases (rs371268096, ExAC 0.002%). This sequence change replaces leucine with phenylalanine at codon 397 of the SKI protein (p.Leu397Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. |