ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) (rs747179265)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522200 SCV000620417 likely pathogenic not provided 2017-08-24 criteria provided, single submitter clinical testing The R8430X variant in the NEB gene has been reported previously in association with NEB-related nemaline myopathy. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R8430X variant is not observed in the homozygous state, or at significant frequency, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R8430X as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763062 SCV000893560 pathogenic Nemaline myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000763062 SCV001378637 pathogenic Nemaline myopathy 2 2019-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8430*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747179265, ExAC 0.002%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 451684). Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.

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