ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.612G>A (p.Trp204Ter) (rs786204476)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000778885 SCV000220336 likely pathogenic GNE myopathy 2014-05-21 criteria provided, single submitter literature only
Illumina Clinical Services Laboratory,Illumina RCV000778885 SCV000915288 uncertain significance GNE myopathy 2018-12-10 criteria provided, single submitter clinical testing The GNE c.612G>A (p.Trp204Ter) variant is a stop-gained variant that is predicted to cause premature truncation of the protein. The variant has been reported in one study in which it was found in a compound heterozygous state with a second missense variant in one patient with hereditary inclusion body myopathy (Saechao et al. 2010). Control data is unavailable for the p.Trp204Ter variant which is reported at a frequency of 0.00006 in the European (non-Finnish) population of the Genome Aggregation Database but this is based on one allele only, in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence and due to the potential impact of stop-gained variants, the p.Trp204Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for GNE-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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