ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)

gnomAD frequency: 0.00189  dbSNP: rs2230850
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130554 SCV000185424 likely benign Hereditary cancer-predisposing syndrome 2015-07-31 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001082666 SCV000252690 benign Neurofibromatosis, type 1 2020-11-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000121639 SCV000270628 likely benign not specified 2016-03-15 criteria provided, single submitter clinical testing p.Val2511Leu in exon 51 of NF1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (58/10402) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs2230850).
GeneDx RCV000680358 SCV000529106 likely benign not provided 2021-02-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 20579941)
Genetic Services Laboratory,University of Chicago RCV000121639 SCV000595976 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121639 SCV000919885 benign not specified 2018-08-13 criteria provided, single submitter clinical testing Variant summary: NF1 c.7468G>C (p.Val2490Leu) results in a conservative amino acid change in the encoded protein sequence that is located outside of any known functional domains. Four of five in-silico tools predict a benign effect of the variant on protein function. The observed variant frequency within African control individuals in the gnomAD database is approximately 25 fold of 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.7468G>C in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign (1x) or likely benign (4x). Based on the evidence outlined above, the variant was classified as benign.
Genome Diagnostics Laboratory,The Hospital for Sick Children RCV001082666 SCV001478989 benign Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001082666 SCV002009286 likely benign Neurofibromatosis, type 1 2021-11-03 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000130554 SCV002528109 benign Hereditary cancer-predisposing syndrome 2020-09-19 criteria provided, single submitter curation
Genome-Nilou Lab RCV001082666 SCV002561300 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
ITMI RCV000121639 SCV000085837 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000680358 SCV001742727 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000680358 SCV001799982 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000680358 SCV001964774 likely benign not provided no assertion criteria provided clinical testing

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