ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3G>A (p.Met1Ile)

dbSNP: rs1598173737
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 RCV000802449 SCV000942281 pathogenic Neurofibromatosis, type 1 2022-02-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 647845). Disruption of the initiator codon has been observed in individual(s) with neurofibromatosis type 1 (PMID: 18041031, 23668869, 23913538). This sequence change affects the initiator methionine of the NF1 mRNA. The next in-frame methionine is located at codon 68.
Ambry Genetics RCV002325548 SCV002626212 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2017-10-09 criteria provided, single submitter clinical testing The p.M1? variant (also known as c.3G>A), located in coding exon 1 of the NF1 gene, results from a G to A substitution at nucleotide position 3. This alters the methionine residue at the initiation codon. This alteration was detected in one individual who meets National Institute of Health Neurofibromatosis Type 1 clinical criteria (Sabbagh A et al. Hum. Mutat., 2013 Nov;34:1510-8). In addition to the clinical data presented in the literature, since sequence variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame, this alteration is interpreted as a disease-causing mutation.
Mayo Clinic Laboratories, Mayo Clinic RCV004792492 SCV005413187 likely pathogenic not provided 2024-05-08 criteria provided, single submitter clinical testing PP4, PP5, PM2_moderate, PVS1_moderate
NHS Central & South Genomic Laboratory Hub RCV000802449 SCV005907183 pathogenic Neurofibromatosis, type 1 2025-04-09 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.