ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter) (rs537560378)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800326 SCV000940034 pathogenic Nemaline myopathy 2 2018-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln7911*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs537560378, ExAC 0.006%). 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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