ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4624CTT[1] (p.Leu1543del)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003599600 SCV004505497 uncertain significance Neurofibromatosis, type 1 2023-03-02 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 variant, c.4564_4566del, results in the deletion of 1 amino acid(s) of the NF1 protein (p.Leu1522del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV004558194 SCV005048213 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-05-25 criteria provided, single submitter clinical testing The c.4564_4566delCTT variant (also known as p.L1522del) is located in coding exon 34 of the NF1 gene. This variant results from an in-frame CTT deletion at nucleotide positions 4564 to 4566. This results in the in-frame deletion of a leucine at codon 1522. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, 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.