ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8324A>C (p.Asn2775Thr)

dbSNP: rs772090874
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220570 SCV000277361 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign)
Labcorp Genetics (formerly Invitae), Labcorp RCV000689877 SCV000817547 likely benign Neurofibromatosis, type 1 2025-01-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000220570 SCV002528146 likely benign Hereditary cancer-predisposing syndrome 2021-02-17 criteria provided, single submitter curation
Ambry Genetics RCV004558553 SCV005048569 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-04-18 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.
Fulgent Genetics, Fulgent Genetics RCV005016601 SCV005639990 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2023-12-27 criteria provided, single submitter clinical testing

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