ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)

gnomAD frequency: 0.00004  dbSNP: rs864622373
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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 RCV000206031 SCV000260335 likely benign Neurofibromatosis, type 1 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317736 SCV000670384 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-01-16 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761161 SCV000891077 uncertain significance Retinoblastoma 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV001753612 SCV002005368 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing Observed in a patient with retinoblastoma (PMID: 34301788); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34301788)
Genome-Nilou Lab RCV000206031 SCV002560526 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008146 SCV005639914 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-03-27 criteria provided, single submitter clinical testing

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