ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002637481 SCV003514646 pathogenic GNE myopathy; Sialuria 2023-08-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2195084). This variant is also known as c.1539G>A (p.Trp513X), Trp513stop. This premature translational stop signal has been observed in individual(s) with autosomal recessive distal myopathy (PMID: 15834044, 24005727). This sequence change creates a premature translational stop signal (p.Trp544*) 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).
Revvity Omics, Revvity RCV003140129 SCV003824575 pathogenic not provided 2022-09-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459764 SCV004191655 pathogenic GNE myopathy 2023-03-31 criteria provided, single submitter clinical testing

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