ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)

dbSNP: rs2061721973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386615 SCV001586879 pathogenic Nemaline myopathy 2 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1073581). 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.Lys8096Serfs*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).
Revvity Omics, Revvity RCV001780355 SCV002018252 pathogenic not provided 2019-04-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469722 SCV004200296 likely pathogenic Arthrogryposis multiplex congenita 6 2023-04-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490238 SCV004241115 pathogenic Nemaline myopathy 2023-12-15 criteria provided, single submitter clinical testing Variant summary: NEB c.24281_24284dupGAGT (p.Lys8096SerfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 157088 control chromosomes. To our knowledge, no occurrence of c.24281_24284dupGAGT in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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