ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)

dbSNP: rs1555605393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659961 SCV000781869 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000659961 SCV002505607 likely pathogenic Neurofibromatosis, type 1 2022-04-11 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM5_STR, PS4_SUP, PM2_SUP, PP2, PP3
Athena Diagnostics RCV002473098 SCV002771581 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing
GeneDx RCV002473098 SCV003761650 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing Observed in individuals with suspected neurofibromatosis type 1 in published literature (Bianchessi et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32575496)

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