Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674303 | SCV000799617 | likely pathogenic | Nemaline myopathy 2 | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674303 | SCV000832584 | pathogenic | Nemaline myopathy 2 | 2018-05-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg8156Serfs*9) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752582527, ExAC 0.1%). This variant has not been reported in the literature in individuals with NEB-related disease. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |