ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2034G>A (p.Pro678=) (rs2285892)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589553 SCV000604473 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162648 SCV000213086 benign Hereditary cancer-predisposing syndrome 2014-11-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000589553 SCV000842885 benign not provided 2017-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000589553 SCV000518953 benign not provided 2016-01-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000356219 SCV000401725 likely benign Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400800 SCV000401726 likely benign Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296834 SCV000401727 likely benign Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371357 SCV000401728 likely benign Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589553 SCV000696389 benign not provided 2016-05-11 criteria provided, single submitter clinical testing Variant summary: The NF1 c.2034G>A (p.Pro678Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 46285/120934 control chromosomes (9925 homozygotes) at a frequency of 0.3827294, which is approximately 1837 times the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219876 SCV000269449 benign not specified 2017-02-28 criteria provided, single submitter clinical testing p.Pro678Pro in exon 18 of NF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 30% (20030/66512) o f European chromosomes and 68% (7103/10384) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2285892).
PreventionGenetics RCV000219876 SCV000306245 benign not specified criteria provided, single submitter clinical testing

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