ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)

dbSNP: rs752582527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674303 SCV000799617 likely pathogenic Nemaline myopathy 2 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674303 SCV000832584 pathogenic Nemaline myopathy 2 2024-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8156Serfs*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 present in population databases (rs752582527, gnomAD 0.007%). 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: 558081). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784292 SCV002018267 pathogenic not provided 2019-12-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459645 SCV004198188 likely pathogenic Arthrogryposis multiplex congenita 6 2023-12-05 criteria provided, single submitter clinical testing

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