ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)

dbSNP: rs1567620403
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803764 SCV000943650 uncertain significance Neurofibromatosis, type 1 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2343 of the NF1 protein (p.Arg2343Trp). 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: 648933). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt NF1 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001759534 SCV002007740 uncertain significance not provided 2021-09-03 criteria provided, single submitter clinical testing Observed in individuals with congenital heart disease (Li 2017, Zhu 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 25486365, 10336779, 30029678, 29089047)
Baylor Genetics RCV000803764 SCV002096962 uncertain significance Neurofibromatosis, type 1 2021-12-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000803764 SCV002561036 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360962 SCV002666575 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-09-25 criteria provided, single submitter clinical testing The p.R2343W variant (also known as c.7027C>T), located in coding exon 47 of the NF1 gene, results from a C to T substitution at nucleotide position 7027. The arginine at codon 2343 is replaced by tryptophan, an amino acid with dissimilar properties. 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 this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495088 SCV002803811 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2022-05-16 criteria provided, single submitter clinical testing

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