ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)

dbSNP: rs1567849208
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001209023 SCV001380442 pathogenic Neurofibromatosis, type 1 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 939599). This variant is also known as c.2835_2836insT (p.Phe944fs, PTC946). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 16835897). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp946*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).
Ambry Genetics RCV004557414 SCV005047623 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-10-16 criteria provided, single submitter clinical testing The p.D946* pathogenic mutation (also known as c.2835dupT), located in coding exon 21 of the NF1 gene, results from a duplication of T at nucleotide position 2835. This changes the amino acid from an aspartic acid to a stop codon within coding exon 21. This alteration was observed in 1 of 77 Taiwanese/Chinese patients with suspected clinical features of NF1 (Lee MJ et al. Hum Mutat, 2006 Aug;27:832). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729814 SCV001979695 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729814 SCV001980594 pathogenic not provided 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.