ClinVar Miner

Submissions for variant NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282838 SCV002570679 likely pathogenic GNE myopathy 2022-07-26 criteria provided, single submitter clinical testing Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 2 in the GNE gene. A presumed nomenclature of c.(51+1_52-1)_(257+1_258-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a large in-frame deletion change in the GNE gene, a known mechanism of disease. The variant was absent in 20834 control chromosomes. c.(51+1_52-1)_(257+1_258-1)del has been reported in the literature in individuals affected with GNE myopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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