Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413448 | SCV000491406 | likely pathogenic | not provided | 2016-01-05 | criteria provided, single submitter | clinical testing | The c.1480_*48del51insC variant in the CHRNE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1480_*48del51insC variant eliminates the normal Stop codon and replaces it with an Leucine codon, ultimately adding 3 aberrant amino acids to the C-terminal end of the CHRNE protein, denoted p.Ter494LeuextX3. This alteration may interfere with the proper formation and/or function of the CHRNE protein. The c.1480_*48del51insC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1480_*48del51insC variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
Eurofins Ntd Llc |
RCV000413448 | SCV000700955 | uncertain significance | not provided | 2015-10-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000413448 | SCV002563372 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002523922 | SCV003003274 | uncertain significance | Congenital myasthenic syndrome 4A | 2022-11-02 | criteria provided, single submitter | clinical testing | This sequence change disrupts the translational stop signal of the CHRNE mRNA. It is expected to extend the length of the CHRNE protein by 3 additional amino acid residues. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |