ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.636dup (p.Asp213fs)

dbSNP: rs1057517094
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410658 SCV000486737 likely pathogenic GNE myopathy 2016-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001215762 SCV001387524 pathogenic GNE myopathy; Sialuria 2020-02-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297). This variant has not been reported in the literature in individuals with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 371213). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp244Argfs*13) in the GNE gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV000410658 SCV004191646 likely pathogenic GNE myopathy 2023-05-18 criteria provided, single submitter clinical testing

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