ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.19836C>T (p.Asp6612=) (rs371194689)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548636 SCV000640651 uncertain significance Nemaline myopathy 2 2019-10-28 criteria provided, single submitter clinical testing This sequence change affects codon 6612 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 128 of the NEB coding sequence, which is part of the consensus splice site for this exon. This variant is present in population databases (rs371194689, ExAC 0.01%) but has not been reported in the literature in individuals with an NEB-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA 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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