ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1281G>A (p.Lys427=) (rs1554659670)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532647 SCV000632643 uncertain significance GNE myopathy; Sialuria 2016-11-14 criteria provided, single submitter clinical testing This sequence change affects codon 458 of the GNE mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GNE protein. It also falls at the last nucleotide of exon 7 of the GNE coding sequence. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GNE-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 novel silent change that falls within the consensus splice site and has an uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597411 SCV000705775 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing

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