Total submissions: 8
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 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000434650 | SCV000533038 | likely benign | not provided | 2021-05-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
RCV000434650 | SCV001472280 | likely benign | not provided | 2019-10-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000780545 | SCV002070427 | likely benign | not specified | 2021-12-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163564 | SCV002528111 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-19 | criteria provided, single submitter | curation | |
Genome- |
RCV001080554 | SCV002561304 | benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |