ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2675_2678del (p.Ile892fs)

dbSNP: rs2148844303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037886 SCV002228248 pathogenic Nemaline myopathy 2 2021-01-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ile892Thrfs*64) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEB-related conditions.

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