ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)

gnomAD frequency: 0.00001  dbSNP: rs756726488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667053 SCV000791446 likely pathogenic Nemaline myopathy 2 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000667053 SCV002244587 pathogenic Nemaline myopathy 2 2023-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu8106*) 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 premature translational stop signal has been observed in individual(s) with clinical features of nemaline myopathy (PMID: 25205138). ClinVar contains an entry for this variant (Variation ID: 551889). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004568506 SCV005052085 pathogenic Arthrogryposis multiplex congenita 6 2024-03-02 criteria provided, single submitter clinical testing

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