Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501203 | SCV000596929 | uncertain significance | not specified | 2016-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001061176 | SCV001225909 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with arginine at codon 375 of the SBF2 protein (p.Gln375Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs770153492, ExAC 0.002%). This variant has not been reported in the literature in individuals with SBF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 436639). 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"). 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. |
Molecular Genetics Laboratory, |
RCV001173113 | SCV001336189 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |