Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129895 | SCV000184712 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-02-25 | criteria provided, single submitter | clinical testing | The c.5289A>G variant (also known as p.Q1763Q) located in coding exon 38, results from an A to G substitution at nucleotide position 5289 of the NF1 gene. This nucleotide substitution does not change the amino acid at codon 1763. This variant was previously reported in the SNPDatabase as rs199703296. Based on data from the 1000 Genomes Project, the G allele has an overall frequency of approximately 0.05% (1/2184) total alleles studied. The highest observed frequency was 0.52% (1/194) Luhya alleles. This nucleotide position is poorly conserved in available vertebrate species. This alteration is predicted to create new alternate splice donor and acceptor sites by the BDGP and ESEfinder in silico models; however, experimental evidence is not currently available. Since supporting evidence is limited at this time, the clinical significance of c.5289A>G remains unclear. |
Invitae | RCV000546358 | SCV000628651 | likely benign | Neurofibromatosis, type 1 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001588981 | SCV001823072 | uncertain significance | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign in association with neurodevelopmental disorders to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 30287823) |
Genome- |
RCV000546358 | SCV002560531 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336284 | SCV002640630 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2020-08-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002505106 | SCV002815198 | uncertain significance | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2021-12-30 | criteria provided, single submitter | clinical testing |