ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3030A>C (p.Gln1010His)

gnomAD frequency: 0.00001  dbSNP: rs1405071456
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023286 SCV002306644 uncertain significance Neurofibromatosis, type 1 2022-08-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 1512957). This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1010 of the NF1 protein (p.Gln1010His).
Ambry Genetics RCV004558805 SCV005047658 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-09-06 criteria provided, single submitter clinical testing The p.Q1010H variant (also known as c.3030A>C), located in coding exon 23 of the NF1 gene, results from an A to C substitution at nucleotide position 3030. The glutamine at codon 1010 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999611 SCV005624559 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.