ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.4819T>C (p.Leu1607=) (rs10512435)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163175 SCV000213696 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221784 SCV000269455 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu1628Leu in exon 37 of NF1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 7.0% (309/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs10512435).
PreventionGenetics,PreventionGenetics RCV000221784 SCV000306272 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372852 SCV000401757 likely benign Café-au-lait macules with pulmonary stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278397 SCV000401758 likely benign Neurofibromatosis, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352103 SCV000401759 likely benign Neurofibromatosis-Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388338 SCV000401760 likely benign Neurofibromatosis, familial spinal 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000589955 SCV000518974 benign not provided 2016-04-05 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.
Invitae RCV000589955 SCV000554870 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589955 SCV000604521 benign not provided 2017-10-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589955 SCV000696395 benign not provided 2016-05-11 criteria provided, single submitter clinical testing Variant summary: The NF1 c.4819T>C (p.Leu1607Leu) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. This variant was found in 833/121372 control chromosomes (29 homozygotes) at a frequency of 0.0068632, which is approximately 33 times the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084), suggesting this variant is a benign polymorphism. Reputable database/clinical diagnostic laboratory cites this variant with classification of "Benign". Taken together, this variant is classified as Benign.
Athena Diagnostics Inc RCV000589955 SCV000842892 benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000278397 SCV000588792 uncertain significance Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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