ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)

gnomAD frequency: 0.00001  dbSNP: rs1553740233
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523219 SCV000620509 pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing The R6469X variant in the NEB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R6469X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R6469X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000984199 SCV001592118 pathogenic Nemaline myopathy 2 2023-06-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 451764). 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.Arg6469*) 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). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003476223 SCV004200117 likely pathogenic Arthrogryposis multiplex congenita 6 2023-09-15 criteria provided, single submitter clinical testing
Counsyl RCV000984199 SCV001132256 likely pathogenic Nemaline myopathy 2 2017-10-20 no assertion criteria provided clinical testing

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