ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1356A>G (p.Gln452=)

gnomAD frequency: 0.00001  dbSNP: rs1324833228
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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 RCV000537574 SCV000628364 likely benign Neurofibromatosis, type 1 2023-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316490 SCV000670566 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-05-10 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.
Sema4, Sema4 RCV000569656 SCV002527394 likely benign Hereditary cancer-predisposing syndrome 2021-11-02 criteria provided, single submitter curation
Genome-Nilou Lab RCV000537574 SCV002560272 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476106 SCV002795421 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-08-18 criteria provided, single submitter clinical testing

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