ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)

dbSNP: rs753245823
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002413364 SCV002721951 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing The p.C622* pathogenic mutation (also known as c.1866T>A), located in coding exon 17 of the NF1 gene, results from a T to A substitution at nucleotide position 1866. This changes the amino acid from a cysteine to a stop codon within coding exon 17. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
GeneDx RCV003320664 SCV004025725 pathogenic not provided 2024-05-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28961165)
Baylor Genetics RCV003470618 SCV004198267 pathogenic Juvenile myelomonocytic leukemia 2023-10-10 criteria provided, single submitter clinical testing
Medical Genetics, University of Parma RCV000497140 SCV000588736 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided 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.