ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu)

gnomAD frequency: 0.00005  dbSNP: rs371919434
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687717 SCV000815302 uncertain significance Congenital myasthenic syndrome 4A 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 368 of the CHRNE protein (p.Pro368Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs371919434, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004026272 SCV004923576 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.1103C>T (p.P368L) alteration is located in exon 10 (coding exon 10) of the CHRNE gene. This alteration results from a C to T substitution at nucleotide position 1103, causing the proline (P) at amino acid position 368 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830490 SCV002093387 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.