ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)

dbSNP: rs112589561
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166082 SCV000216845 likely benign Hereditary cancer-predisposing syndrome 2014-12-16 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.
Invitae RCV000548375 SCV000628514 likely benign Neurofibromatosis, type 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000615625 SCV000727884 likely benign not specified 2018-02-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Sema4, Sema4 RCV000166082 SCV002527505 likely benign Hereditary cancer-predisposing syndrome 2021-08-19 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV002262762 SCV002545909 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing NF1: BP4, BP7
Genome-Nilou Lab RCV000548375 SCV002560658 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492667 SCV002800442 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-11-24 criteria provided, single submitter clinical testing

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