ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2499del (p.Ala834fs)

dbSNP: rs1553564693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503091 SCV000595957 likely pathogenic Nemaline myopathy 2 2016-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000503091 SCV004300643 pathogenic Nemaline myopathy 2 2023-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala834Profs*9) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 435967). For these reasons, this variant has been classified as Pathogenic.

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