Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001323704 | SCV001514631 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2020-05-27 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals with INF2-related conditions. This variant is present in population databases (rs779176784, ExAC 0.02%). This sequence change replaces proline with leucine at codon 1102 of the INF2 protein (p.Pro1102Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. |