ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1806A>G (p.Glu602=)

gnomAD frequency: 0.00004  dbSNP: rs370454753
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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 RCV000165897 SCV000216652 likely benign Hereditary cancer-predisposing syndrome 2014-09-25 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 RCV000195612 SCV000254483 likely benign Neurofibromatosis, type 1 2025-01-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165897 SCV002527418 likely benign Hereditary cancer-predisposing syndrome 2020-11-09 criteria provided, single submitter curation
Genome-Nilou Lab RCV000195612 SCV002560935 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998338 SCV005624527 uncertain significance not provided 2024-09-29 criteria provided, single submitter clinical testing The NF1 c.1806A>G (p.Glu602=) synonymous variant has not been reported in individuals with NF1-related conditions in the published literature. The frequency of this variant in the general population, 0.000093 (12/128912 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect NF1 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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