ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1220dup (p.Ser408fs)

dbSNP: rs2133041569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783388 SCV002024877 pathogenic not provided 2020-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034565 SCV002238659 pathogenic GNE myopathy; Sialuria 2021-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser439Lysfs*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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with autosomal recessive GNE myopathy (PMID: 24695763).
Baylor Genetics RCV003470904 SCV004191654 pathogenic GNE myopathy 2023-04-08 criteria provided, single submitter clinical testing

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