Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000215369 | SCV000273796 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-02-03 | criteria provided, single submitter | clinical testing | The c.4819dupT pathogenic mutation (also known as c.4756dupT), located in coding exon 36 of the NF1 gene, results from a duplication of a T at nucleotide position 4819, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
| Labcorp Genetics |
RCV001385426 | SCV001585263 | pathogenic | Neurofibromatosis, type 1 | 2022-09-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1586Leufs*15) 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: 230301). For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV001385426 | SCV002560088 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| 3billion, |
RCV001385426 | SCV002573007 | pathogenic | Neurofibromatosis, type 1 | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000230301). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |