ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.680dup (p.His228fs)

dbSNP: rs1554661552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673603 SCV000798826 likely pathogenic GNE myopathy 2018-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001237229 SCV001409982 pathogenic GNE myopathy; Sialuria 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His259Alafs*7) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 557458). For these reasons, this variant has been classified as Pathogenic.

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