ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)

gnomAD frequency: 0.00001  dbSNP: rs1218073575
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668980 SCV000793669 likely pathogenic Nemaline myopathy 2 2017-08-22 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000668980 SCV001251729 pathogenic Nemaline myopathy 2 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668980 SCV004661466 pathogenic Nemaline myopathy 2 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu8109*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 553511). 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 RCV004568519 SCV005052142 likely pathogenic Arthrogryposis multiplex congenita 6 2023-12-25 criteria provided, single submitter clinical testing

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