ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)

dbSNP: rs779909544
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986840 SCV001135979 likely pathogenic Nemaline myopathy 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986840 SCV001205376 pathogenic Nemaline myopathy 2 2024-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3538*) 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 (no rsID available, 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: 801770). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004569830 SCV005052137 likely pathogenic Arthrogryposis multiplex congenita 6 2024-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021290 SCV005650447 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-04-08 criteria provided, single submitter clinical testing

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