ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1305del (p.Gln436fs)

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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. RCV002309685 SCV002603563 likely pathogenic GNE myopathy 2021-11-12 criteria provided, single submitter clinical testing NM_001128227.2(GNE):c.1398delT(Q467Sfs*13) 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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