Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061271 | SCV001226009 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2019-02-19 | 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 (rs774280485, ExAC 0.006%). This sequence change replaces serine with threonine at codon 772 of the INF2 protein (p.Ser772Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. |