ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)

gnomAD frequency: 0.00001  dbSNP: rs1264981144
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547272 SCV000628545 benign Neurofibromatosis, type 1 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314931 SCV000663139 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-02-27 criteria provided, single submitter clinical testing The p.M1260V variant (also known as c.3778A>G), located in coding exon 28 of the NF1 gene, results from an A to G substitution at nucleotide position 3778. The methionine at codon 1260 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000547272 SCV002560330 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476108 SCV002776694 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-02-03 criteria provided, single submitter clinical testing
GeneDx RCV004722871 SCV005331841 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25486365, 22807134)

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