ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2251+5A>G

gnomAD frequency: 0.00001  dbSNP: rs786201934
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164471 SCV000215115 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing The c.2251+5A>G intronic variant results from an A to G substitution 5 nucleotides after coding exon 18 in the NF1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 55000 alleles tested) in our clinical cohort. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of c.2251+5A>G remains unclear.
Invitae RCV000800948 SCV000940693 likely benign Neurofibromatosis, type 1 2023-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000800948 SCV002562016 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485017 SCV002781854 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162691 SCV003897103 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-19 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.

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