ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21102T>C (p.Asp7034=) (rs531711771)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527939 SCV000640678 uncertain significance Nemaline myopathy 2 2017-05-24 criteria provided, single submitter clinical testing This sequence change affects codon 7034 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 also falls at the last nucleotide of exon 140 of the NEB coding sequence, which is part of the consensus splice site for this exon. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). This variant is present in population databases (rs531711771, ExAC 0.008%). This variant has not been reported in the literature in individuals with a NEB-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on NEB function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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