Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703915 | SCV000832842 | pathogenic | Nemaline myopathy 2 | 2019-07-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1788*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201636991, ExAC 0.02%). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 580393). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. |