ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1417del (p.Ser473fs)

dbSNP: rs1057516965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411761 SCV000486512 likely pathogenic GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003766131 SCV004578127 pathogenic GNE myopathy; Sialuria 2023-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GNE-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371049). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser504Profs*6) 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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