Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000516962 | SCV000613768 | likely benign | not specified | 2017-06-20 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000535629 | SCV000652080 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E | 2019-04-11 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 591 of the INF2 protein (p.Asp591Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs369421697, ExAC 0.03%) but has not been reported in the literature in individuals with a INF2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |