ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)

gnomAD frequency: 0.00002  dbSNP: rs747330799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001435929 SCV001638762 likely benign Neurofibromatosis, type 1 2020-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454152 SCV002616937 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-10-25 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.
Fulgent Genetics, Fulgent Genetics RCV002502879 SCV002807800 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-12-18 criteria provided, single submitter clinical testing

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