ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.237A>T (p.Leu79Phe)

dbSNP: rs752208826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632487 SCV000753672 uncertain significance Neurofibromatosis, type 1 2017-11-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 79 of the NF1 protein (p.Leu79Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002319061 SCV001176143 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-11-05 criteria provided, single submitter clinical testing The p.L79F variant (also known as c.237A>T), located in coding exon 3 of the NF1 gene, results from an A to T substitution at nucleotide position 237. The leucine at codon 79 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000632487 SCV002561426 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019049 SCV005646984 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-02-28 criteria provided, single submitter clinical testing

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