ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.856C>T (p.Gln286Ter)

dbSNP: rs1057516746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409391 SCV000486152 likely pathogenic GNE myopathy 2016-04-07 criteria provided, single submitter clinical testing
Invitae RCV001861376 SCV002154228 pathogenic GNE myopathy; Sialuria 2022-04-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln317*) 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: 370758).

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