ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)

dbSNP: rs786204558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169277 SCV000220583 likely pathogenic GNE myopathy 2014-08-08 criteria provided, single submitter literature only
Fulgent Genetics, Fulgent Genetics RCV002492689 SCV002797357 pathogenic GNE myopathy; Sialuria 2022-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002492689 SCV003292791 pathogenic GNE myopathy; Sialuria 2022-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 188916). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive GNE-related myopathy (PMID: 30390020). This variant is present in population databases (rs786204558, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Gln467*) 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).
Baylor Genetics RCV000169277 SCV004191652 pathogenic GNE myopathy 2024-02-17 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002492689 SCV005416287 pathogenic GNE myopathy; Sialuria criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PM3

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