ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.934_937del (p.Gly312fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309415 SCV002603791 likely pathogenic GNE myopathy 2022-03-31 criteria provided, single submitter clinical testing NM_001128227.2(GNE):c.1027_1030delGGAA(G343Hfs*3) is expected to be pathogenic in the context of GNE myopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GNE, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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