ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.702G>A (p.Leu234=) (rs1801052)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162647 SCV000213085 benign Hereditary cancer-predisposing syndrome 2014-10-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218671 SCV000269460 benign not specified 2014-12-02 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.702G) is the minor allele. The c.7 02A allele has been identified in 70% (46585/66678) of European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs1 801052) and thus meets criteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000218671 SCV000306287 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319858 SCV000401693 likely benign Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374483 SCV000401694 likely benign Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279983 SCV000401695 likely benign Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334631 SCV000401696 likely benign Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000218671 SCV000515325 benign not specified 2015-12-18 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588821 SCV000604468 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000588821 SCV000628753 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588821 SCV000696403 benign not provided 2016-05-11 criteria provided, single submitter clinical testing Variant summary: The NF1 c.702G>A (p.Leu234Leu) 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 and 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 75516/121252 control chromosomes (24613 homozygotes) at a frequency of 0.6228021, signifying it is the common allele in the population and is thus a benign polymorphism. In addition, one clinical diagnostic laboratories has classified this variant as benign. Taken together, this variant is classified as benign.

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