ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)

dbSNP: rs756384471
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549960 SCV000640731 pathogenic Nemaline myopathy 2 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro8025Serfs*154) 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 present in population databases (rs756384471, gnomAD 0.02%). 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: 465574). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000549960 SCV000799414 uncertain significance Nemaline myopathy 2 2018-04-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003476279 SCV004200069 likely pathogenic Arthrogryposis multiplex congenita 6 2024-03-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488672 SCV004238307 likely pathogenic not provided 2023-05-24 criteria provided, single submitter clinical testing
Center of Excellence for Medical Genomics, Chulalongkorn University RCV000549960 SCV002546538 pathogenic Nemaline myopathy 2 2022-09-08 no assertion criteria provided research

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