ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23378del (p.Met7793fs)

dbSNP: rs1553603690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667024 SCV000791411 likely pathogenic Nemaline myopathy 2 2017-05-10 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000667024 SCV000890868 pathogenic Nemaline myopathy 2 2016-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667024 SCV004293396 pathogenic Nemaline myopathy 2 2023-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met7828Serfs*51) 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: 551865). For these reasons, this variant has been classified as Pathogenic.

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