ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)

dbSNP: rs2152876577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963126 SCV002242048 pathogenic Nemaline myopathy 2 2022-06-13 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.Asn8203Lysfs*13) 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).
Baylor Genetics RCV003464325 SCV004192630 likely pathogenic Arthrogryposis multiplex congenita 6 2023-01-30 criteria provided, single submitter clinical testing

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