Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
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). |
Prevention |
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). |