ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)

dbSNP: rs786203038
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 RCV000166171 SCV000216946 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-12 criteria provided, single submitter clinical testing The p.E41A variant (also known as c.122A>C), located in coding exon 2 of the NF1 gene, results from an A to C substitution at nucleotide position 122. The glutamic acid at codon 41 is replaced by alanine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position.<span style="background-color:initial">To date, this alteration has been detected with an allele frequency of approximately 0.01% (greater than 55000 alleles tested) in our clinical cohort.<span style="background-color:initial">This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.<span style="background-color:initial">Since supporting evidence is limited at this time, the clinical significance of p.E41A remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632311 SCV000753488 likely benign Neurofibromatosis, type 1 2024-06-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000632311 SCV002561408 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558386 SCV005048604 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-10-14 criteria provided, single submitter clinical testing The c.122A>C (p.E41A) alteration is located in exon 2 (coding exon 2) of the NF1 gene. This alteration results from a A to C substitution at nucleotide position 122, causing the glutamic acid (E) at amino acid position 41 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.