Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002315760 | SCV000663205 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2024-12-04 | criteria provided, single submitter | clinical testing | The p.L2602V variant (also known as c.7804C>G), located in coding exon 52 of the NF1 gene, results from a C to G substitution at nucleotide position 7804. The leucine at codon 2602 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Gene |
RCV000681297 | SCV000808759 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | This variant is denoted NF1 c.7804C>G at the cDNA level, p.Leu2602Val (L2602V) at the protein level, and results in the change of a Leucine to a Valine (CTA>GTA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. NF1 Leu2602Val was not observed in large population cohorts (Lek 2016). This variant is located in C-terminal domain (Luo 2014). While protein-based in silico analysis supports that this variant does not alter protein structure/function, splicing models predict the loss of the nearby natural splice donor site. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available evidence, it is unclear whether NF1 Leu2602Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
| Labcorp Genetics |
RCV001060888 | SCV001225605 | likely benign | Neurofibromatosis, type 1 | 2025-01-15 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV001060888 | SCV002561148 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV004569126 | SCV005052234 | uncertain significance | Juvenile myelomonocytic leukemia | 2024-02-11 | criteria provided, single submitter | clinical testing |