ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer)

dbSNP: rs2153991555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007162 SCV002236420 pathogenic Nemaline myopathy 2 2022-11-01 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.Asp3863Valfs*2) 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: 1451228).
Baylor Genetics RCV004571700 SCV005052094 likely pathogenic Arthrogryposis multiplex congenita 6 2024-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025508 SCV005650440 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-05-07 criteria provided, single submitter clinical testing

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