ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)

dbSNP: rs772009599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671088 SCV000796032 likely pathogenic Nemaline myopathy 2 2017-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671088 SCV000823432 pathogenic Nemaline myopathy 2 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr8045Cysfs*137) 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 (rs772009599, gnomAD 0.006%). 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: 555293). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465508 SCV004200093 likely pathogenic Arthrogryposis multiplex congenita 6 2024-02-29 criteria provided, single submitter clinical testing

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