ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)

gnomAD frequency: 0.00026  dbSNP: rs141897690
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163564 SCV000214122 likely benign Hereditary cancer-predisposing syndrome 2014-08-25 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001080554 SCV000284514 likely benign Neurofibromatosis, type 1 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000434650 SCV000533038 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780545 SCV000917891 benign not specified 2018-04-30 criteria provided, single submitter clinical testing Variant summary: NF1 c.7491C>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The observed variant frequency within African control individuals in the gnomAD database is approximately 3 fold above the estimated maximal expected allele frequency for a pathogenic variant in NF1 causing Neurofibromatosis Type 1 phenotype (0.00021), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.7491C>G in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000434650 SCV001472280 likely benign not provided 2019-10-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000780545 SCV002070427 likely benign not specified 2021-12-23 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000163564 SCV002528111 likely benign Hereditary cancer-predisposing syndrome 2021-06-19 criteria provided, single submitter curation
Genome-Nilou Lab RCV001080554 SCV002561304 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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