ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1510dup (p.Leu504fs)

dbSNP: rs1828669338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231445 SCV001403968 pathogenic GNE myopathy; Sialuria 2023-05-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu535Profs*3) 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: 958303). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004570575 SCV005059616 likely pathogenic GNE myopathy 2024-02-07 criteria provided, single submitter clinical testing

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