ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19944+7A>G

gnomAD frequency: 0.00001  dbSNP: rs201751179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809814 SCV000949993 uncertain significance Nemaline myopathy 2 2022-02-18 criteria provided, single submitter clinical testing This sequence change falls in intron 129 of the NEB gene. It does not directly change the encoded amino acid sequence of the NEB protein. This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 653949). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000809814 SCV002084107 uncertain significance Nemaline myopathy 2 2020-12-11 no assertion criteria provided clinical testing

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