ClinVar Miner

Submissions for variant NM_001128227.3(GNE):c.82_83dup (p.Asn28fs)

dbSNP: rs1554664095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671048 SCV000795988 uncertain significance GNE myopathy 2017-11-27 criteria provided, single submitter clinical testing
Invitae RCV001861801 SCV002170410 pathogenic GNE myopathy; Sialuria 2020-11-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 555259). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn28Lysfs*55) in the GNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297).

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