ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)

gnomAD frequency: 0.00001  dbSNP: rs1472403020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598513 SCV000709506 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531111 SCV003032014 pathogenic Nemaline myopathy 2 2022-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met8416Aspfs*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). This variant is not present in population databases (gnomAD no frequency). 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: 502672). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465348 SCV004200113 likely pathogenic Arthrogryposis multiplex congenita 6 2024-02-05 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004698844 SCV005200924 likely pathogenic NEB-related disorder 2024-04-10 criteria provided, single submitter clinical testing PVS1, PM2

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