Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001068391 | SCV001233503 | likely pathogenic | Neurofibromatosis, type 1 | 2023-05-08 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 861799). This missense change has been observed in individual(s) with neurofibromatosis type 1 (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1160 of the NF1 protein (p.Gly1160Asp). |
| Medical Genetics, |
RCV001068391 | SCV002567784 | likely pathogenic | Neurofibromatosis, type 1 | 2022-08-17 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004559896 | SCV005047714 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-12-21 | criteria provided, single submitter | clinical testing | The c.3479G>A (p.G1160D) alteration is located in exon 26 (coding exon 26) of the NF1 gene. This alteration results from a G to A substitution at nucleotide position 3479, causing the glycine (G) at amino acid position 1160 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |