ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.3498C>T (p.Gly1166=) (rs2066733)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000680334 SCV000884232 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130838 SCV000185736 benign Hereditary cancer-predisposing syndrome 2014-06-30 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
Center for Human Genetics, Inc RCV000204550 SCV000781988 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000680334 SCV000519043 benign not provided 2017-09-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000214487 SCV000919871 benign not specified 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The NF1 c.3498C>T (p.Gly1166Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 335/277088 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.012777 (307/24028). This frequency is about 61 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 African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likley benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000204550 SCV000262400 benign Neurofibromatosis, type 1 2018-01-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214487 SCV000269453 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Gly1166Gly in exon 27 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 1.1% (49/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2066733).
PreventionGenetics RCV000214487 SCV000306259 benign not specified criteria provided, single submitter clinical testing

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