ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3384del (p.Asp1129fs)

dbSNP: rs2099386045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216978 SCV001388803 pathogenic Nemaline myopathy 2 2019-05-10 criteria provided, single submitter clinical testing Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NEB-related conditions. This sequence change creates a premature translational stop signal (p.Asp1129Thrfs*55) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).
Baylor Genetics RCV003462736 SCV004198194 likely pathogenic Arthrogryposis multiplex congenita 6 2024-02-05 criteria provided, single submitter clinical testing

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