Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520425 | SCV000618289 | uncertain significance | not specified | 2017-06-30 | criteria provided, single submitter | clinical testing | Another variant of uncertain significance has been identified in the NEB gene. The E6407K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E6407K variant is observed in 26/7824 (0.3%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E6407K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV000641399 | SCV000763040 | likely benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing |