ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10560T>C (p.Asp3520=)

gnomAD frequency: 0.00001  dbSNP: rs368803600
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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 RCV001359169 SCV001555031 uncertain significance Nemaline myopathy 2 2022-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 3520 of the NEB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NEB protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368803600, 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: 1051169). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. RCV001359169 SCV002077114 uncertain significance Nemaline myopathy 2 2020-01-12 no assertion criteria provided clinical testing

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