ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5523A>G (p.Gln1841=)

gnomAD frequency: 0.00005  dbSNP: rs151046636
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218121 SCV000273204 likely benign Hereditary cancer-predisposing syndrome 2015-01-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000526089 SCV000628664 benign Neurofibromatosis, type 1 2024-01-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001328373 SCV001519492 likely benign not specified 2021-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008158 SCV005639925 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-03-13 criteria provided, single submitter clinical testing

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