ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)

dbSNP: rs759679443
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220091 SCV000276817 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-26 criteria provided, single submitter clinical testing The p.R720W variant (also known as c.2158C>T), located in coding exon 18 of the NF1 gene, results from a C to T substitution at nucleotide position 2158. The arginine at codon 720 is replaced by tryptophan, an amino acid with dissimilar properties. 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 0.004% (greater than 110000 alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence is limited at this time, the clinical significance of p.R720W remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000465439 SCV000542157 likely benign Neurofibromatosis, type 1 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001775692 SCV002013570 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10336779)
Genome-Nilou Lab RCV000465439 SCV002562003 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415909 SCV002724637 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, Fulgent Genetics RCV002500735 SCV002777976 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-11-11 criteria provided, single submitter clinical testing

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