Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002342870 | SCV002644297 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-04-15 | criteria provided, single submitter | clinical testing | The c.4977dupT pathogenic mutation, located in coding exon 36 of the NF1 gene, results from a duplication of T at nucleotide position 4977, causing a translational frameshift with a predicted alternate stop codon (p.N1660*). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Labcorp Genetics |
RCV003102667 | SCV003311814 | pathogenic | Neurofibromatosis, type 1 | 2024-08-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1660*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1744497). For these reasons, this variant has been classified as Pathogenic. |
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV003102667 | SCV003808089 | likely pathogenic | Neurofibromatosis, type 1 | 2022-09-09 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 very strong, PM2 moderated |