ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)

gnomAD frequency: 0.00004  dbSNP: rs375776474
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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 RCV000165337 SCV000216060 likely benign Hereditary cancer-predisposing syndrome 2014-08-05 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 RCV000198148 SCV000253222 likely benign Neurofibromatosis, type 1 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001557429 SCV001779187 likely benign not provided 2019-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818378 SCV002071878 likely benign not specified 2021-09-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000198148 SCV002560856 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485024 SCV002802190 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552905 SCV004757760 likely benign NF1-related disorder 2019-10-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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