ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12057C>A (p.Phe4019Leu)

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 RCV003498937 SCV004262529 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 4019 of the SYNE2 protein (p.Phe4019Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004369000 SCV004958862 uncertain significance not specified 2023-09-22 criteria provided, single submitter clinical testing The c.12057C>A (p.F4019L) alteration is located in exon 61 (coding exon 60) of the SYNE2 gene. This alteration results from a C to A substitution at nucleotide position 12057, causing the phenylalanine (F) at amino acid position 4019 to be replaced by a leucine (L). 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.