ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2943G>A (p.Glu981=) (rs398124170)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081133 SCV000113041 uncertain significance not provided 2013-10-18 criteria provided, single submitter clinical testing
Invitae RCV000545883 SCV000640768 uncertain significance Nemaline myopathy 2 2017-09-05 criteria provided, single submitter clinical testing This sequence change affects codon 981 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 also occurs at the last nucleotide of exon 29 of the NEB coding sequence and affects a nucleotide within the consensus splice site of the adjacent intron. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 95127). Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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