ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2294G>A (p.Arg765His) (rs199474777)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197680 SCV000254487 likely benign Neurofibromatosis, type 1 2020-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000221393 SCV000277121 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-13 criteria provided, single submitter clinical testing The p.R765H variant (also known as c.2294G>A), located in coding exon 19 of the NF1 gene, results from a G to A substitution at nucleotide position 2294.This variant was reported in one NF1 patient but not in affected relatives(Abernathy CR, et al. Hum.Mutat. 1997 ; 9(6):548-54). The arginine at codon 765 is replaced by histidine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs199474777.To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than55000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence for this variant is limited at this time, the clinical significance ofp.R765Hremains unclear.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000197680 SCV000781945 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000197680 SCV000803602 uncertain significance Neurofibromatosis, type 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Insufficient Evidence, for Neurofibromatosis 1, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder.
GeneDx RCV000059165 SCV000808282 likely benign not provided 2018-06-05 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.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001009580 SCV001169681 uncertain significance Neurofibromatosis, type 1; Tibial pseudoarthrosis 2018-11-10 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000059165 SCV001500110 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059165 SCV000090694 not provided not provided no assertion provided not provided

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