Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001298520 | SCV001487579 | uncertain significance | Neurofibromatosis, type 1 | 2020-09-01 | 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of neurofibromatosis (PMID: 29685074). This variant is also known as c.7241A>C (p.His2414Pro) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with proline at codon 2393 of the NF1 protein (p.His2393Pro). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and proline. |
| Medical Genetics, |
RCV001298520 | SCV002567767 | uncertain significance | Neurofibromatosis, type 1 | 2022-08-17 | criteria provided, single submitter | clinical testing |