ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.5364G>A (p.Trp1788Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703915 SCV000832842 pathogenic Nemaline myopathy 2 2018-04-02 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 disease. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.

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