Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559396 | SCV000636716 | uncertain significance | Perlman syndrome | 2018-04-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with DIS3L2-related disease. ClinVar contains an entry for this variant (Variation ID: 463047). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with threonine at codon 372 of the DIS3L2 protein (p.Arg372Thr). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and threonine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). |