ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)

gnomAD frequency: 0.00001  dbSNP: rs762133567
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641322 SCV000762963 pathogenic Nemaline myopathy 2 2024-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu8168Phefs*30) 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 present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with nemaline myopathy (PMID: 21520333, 25205138; Invitae). ClinVar contains an entry for this variant (Variation ID: 533980). 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.
Athena Diagnostics RCV000712391 SCV000842868 pathogenic not provided 2018-03-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465402 SCV004200064 pathogenic Arthrogryposis multiplex congenita 6 2024-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000712391 SCV005414793 likely pathogenic not provided 2024-05-21 criteria provided, single submitter clinical testing Reported with a second NEB variant in a family with nemaline myopathy in published literature; however, segregation information was not provided (PMID: 25205138); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25205138)
Fulgent Genetics, Fulgent Genetics RCV005019067 SCV005650356 pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641322 SCV001459166 pathogenic Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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