ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19959del (p.Ser6654fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002614361 SCV002966599 pathogenic Nemaline myopathy 2 2022-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser6654Alafs*27) 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).
Fulgent Genetics, Fulgent Genetics RCV005019291 SCV005650418 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-05-23 criteria provided, single submitter clinical testing

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