ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val)

gnomAD frequency: 0.00001  dbSNP: rs369345045
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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 RCV000167116 SCV000217946 likely benign Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
Labcorp Genetics (formerly Invitae), Labcorp RCV000471627 SCV000542152 benign Neurofibromatosis, type 1 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558410 SCV005048665 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-09-12 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.
Baylor Genetics RCV004567330 SCV005052335 uncertain significance Juvenile myelomonocytic leukemia 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016506 SCV005646755 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-06-11 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000782208 SCV000920689 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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