ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002895080 SCV003244539 uncertain significance Nemaline myopathy 2 2021-10-04 criteria provided, single submitter clinical testing This sequence change affects codon 4006 of the NEB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NEB protein. This variant is present in population databases (rs552686980, ExAC 0.02%). This variant has not been reported in the literature in individuals with NEB-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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