ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)

dbSNP: rs2154175437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946731 SCV002235819 pathogenic Nemaline myopathy 2 2021-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1770*) 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. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001946731 SCV002603069 likely pathogenic Nemaline myopathy 2 2022-03-30 criteria provided, single submitter clinical testing NM_001271208.1(NEB):c.5309T>A(L1770*) is expected to be pathogenic in the context of NEB-related nemaline myopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in NEB, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Baylor Genetics RCV004571728 SCV005052109 likely pathogenic Arthrogryposis multiplex congenita 6 2024-02-08 criteria provided, single submitter clinical testing

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