ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys)

gnomAD frequency: 0.00001  dbSNP: rs754975887
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000641740 SCV000763388 uncertain significance Congenital myasthenic syndrome 4A 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 419 of the CHRNE protein (p.Glu419Lys). This variant is present in population databases (rs754975887, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 534255). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHRNE 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.
Revvity Omics, Revvity RCV003144417 SCV003830624 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609464 SCV005106359 uncertain significance Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing The c.1255G>A (p.E419K) alteration is located in exon 11 (coding exon 11) of the CHRNE gene. This alteration results from a G to A substitution at nucleotide position 1255, causing the glutamic acid (E) at amino acid position 419 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829799 SCV002093377 uncertain significance Congenital myasthenic syndrome 2019-10-28 no assertion criteria provided clinical testing

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.