ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.528T>A (p.Asp176Glu) (rs112306990)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034585 SCV000885828 benign not provided 2018-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129680 SCV000184479 benign Hereditary cancer-predisposing syndrome 2014-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Does not segregate with disease in family study (genes with incomplete penetrance),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034585 SCV000043383 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Center for Human Genetics, Inc RCV000199175 SCV000781873 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034585 SCV000510669 benign not provided 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000034585 SCV000521056 benign not provided 2016-05-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000121638 SCV000248163 benign not specified 2016-10-20 criteria provided, single submitter clinical testing
ITMI RCV000121638 SCV000085836 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000268253 SCV000401689 likely benign Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323382 SCV000401690 likely benign Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000199175 SCV000401691 likely benign Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264802 SCV000401692 likely benign Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000121638 SCV000917883 benign not specified 2017-11-27 criteria provided, single submitter clinical testing Variant summary: The NF1 c.528T>A (p.Asp176Glu) variant involves the alteration of a non-conserved nucleotide and is predicted to be damaging by 3/5 in silico tools. This variant was found in 1021/277004 control chromosomes (gnomAD), predominantly observed in the European (Finnish) subpopulation at a frequency of 0.011683 (301/25764). This frequency is about 56 times the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084), suggesting this is likely a benign polymorphism found primarily in the populations of European (Finnish) origin. This variant has been reported in several patients with neurofibromatosis type 1, including evidence of lack of cosegregation with disease and co-occurrence with other pathogenic variants in the same gene (Fahsold_2000, Ars_2003, and Nemethova_2013), strongly supporting for the benign outcome. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as Benign.
Invitae RCV000199175 SCV000252687 benign Neurofibromatosis, type 1 2018-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121638 SCV000269458 benign not specified 2015-06-22 criteria provided, single submitter clinical testing p.Asp176Glu in exon 5 of NF1: This variant is not expected to have clinical sign ificance because it has been identified in 1% (67/6564) of Finnish chromosomes a nd 0.5% (307/66442) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs112306990).
PreventionGenetics RCV000121638 SCV000306277 benign not specified criteria provided, single submitter clinical testing

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