ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.86T>C (p.Val29Ala)

dbSNP: rs372748927
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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173056 SCV001336131 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002445409 SCV002682257 uncertain significance Inborn genetic diseases 2021-03-18 criteria provided, single submitter clinical testing The p.V29A variant (also known as c.86T>C), located in coding exon 1 of the NEFL gene, results from a T to C substitution at nucleotide position 86. The valine at codon 29 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant Charcot-Marie-Tooth (CMT) disease, type 1F/2E; however, its contribution to the development of autosomal recessive CMT disease, type 1F/2E is uncertain.
Invitae RCV002558747 SCV003292312 uncertain significance Charcot-Marie-Tooth disease type 2E 2022-01-26 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. ClinVar contains an entry for this variant (Variation ID: 916906). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. This variant is present in population databases (rs372748927, gnomAD 0.1%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 29 of the NEFL protein (p.Val29Ala).
PreventionGenetics, part of Exact Sciences RCV003898167 SCV004713336 likely benign NEFL-related condition 2021-03-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.