ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471469 SCV004200343 likely pathogenic Arthrogryposis multiplex congenita 6 2023-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779062 SCV004619067 pathogenic Nemaline myopathy 2 2023-04-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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.Tyr7568Glyfs*2) 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).

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