ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3709-8G>C

gnomAD frequency: 0.00001  dbSNP: rs767650263
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088289 SCV000554918 likely benign Neurofibromatosis, type 1 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679384 SCV000806274 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000679384 SCV002013123 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257731 SCV002527531 likely benign Hereditary cancer-predisposing syndrome 2022-03-05 criteria provided, single submitter curation
Genome-Nilou Lab RCV001088289 SCV002560687 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056031 SCV005726088 benign not specified 2024-11-21 criteria provided, single submitter clinical testing Variant summary: NF1 c.3709-8G>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6.8e-05 in 251264 control chromosomes, predominantly at a frequency of 0.00049 within the Latino subpopulation in the gnomAD database. The observed variant frequency within Latino control individuals in the gnomAD database is approximately 2.35 fold of the estimated maximal expected allele frequency for a pathogenic variant in NF1 causing Neurofibromatosis Type 1 phenotype (0.00021). To our knowledge, no occurrence of c.3709-8G>C in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 412996). Based on the evidence outlined above, the variant was classified as benign.

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